FRMD7 Antibody

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Description

Introduction to FRMD7 Antibody

FRMD7 antibodies are specialized immunological reagents designed to detect the FRMD7 protein, a key regulator of cytoskeletal dynamics linked to X-linked infantile nystagmus (XLIN) and optic nerve development . These antibodies enable precise localization and quantification of FRMD7 in tissues, particularly in retinal starburst amacrine cells and brain regions controlling eye movement . Their development addresses critical gaps in studying FRMD7’s role in neuronal signaling and pathogenesis of ocular motility disorders .

Key Applications in Research

FRMD7 antibodies serve as essential tools in:

ApplicationMethodologyKey Findings
Immunohistochemistry (IHC)Tissue section stainingConfirmed FRMD7 expression in starburst amacrine cells (GCL/INL) and brainstem
Western Blot (WB)Protein detection in lysatesValidated antibody specificity for full-length FRMD7 and splice variants
Co-localization StudiesDual staining with ChAT markersDemonstrated FRMD7 association with cholinergic neurons in retina

Notable Studies:

  • Mouse Models: Antibodies confirmed FRMD7 expression in Frmd7<sup>tm1a</sup> knock-outs using X-gal staining and immunofluorescence .

  • Human Fetal Brain: IHC revealed FRMD7 localization in brainstem and optic nerve, suggesting early developmental roles .

  • Cell Culture: Antibodies tracked FRMD7 isoforms during neuronal differentiation, linking them to neurite outgrowth .

Antibody Validation and Specificity

FRMD7 antibodies face challenges due to low protein abundance and variable isoforms . Validation strategies include:

Validation MethodDetailsOutcome
X-gal StainingUsed in Frmd7<sup>tm1a</sup> mice (LacZ reporter) to map expression patternsConfirmed antibody specificity against endogenous FRMD7
Negative ControlsIncubation with rabbit normal serum instead of primary antibodyEliminated non-specific binding in IHC
Splice Variant TestsRT-PCR and WB to differentiate FRMD7-FL (full-length) vs. FRMD7-S (truncated)Identified isoform-specific antibodies for functional studies

Limitations:

  • Early studies reported inconsistent results due to poor antibody reliability .

  • Commercial antibodies vary in cross-reactivity; polyclonal antibodies (e.g., LSBio LS-C166255) show broader utility than monoclonal .

Retinal Development

  • Starburst Amacrine Cells: FRMD7 antibodies confirmed colocalization with ChAT in mouse retina, linking FRMD7 to cholinergic signaling and OKN deficits .

  • Optic Nerve Pathology: Human studies using antibodies revealed reduced retinal nerve fiber layer thickness in FRMD7 mutation carriers .

Brainstem and Cerebellum

  • Fetal Brain Expression: IHC demonstrated FRMD7 in human brainstem and optic nerve, suggesting roles in early ocular motility circuits .

  • Neuronal Differentiation: In NT2 cells, FRMD7 antibodies tracked protein dynamics during retinoic acid-induced differentiation, correlating with neurite elongation .

Challenges and Limitations

  1. Antibody Reliability: Early studies highlighted inconsistent results due to cross-reactivity or low affinity .

  2. Isoform Complexity: FRMD7-S (truncated variant) lacks detection in some antibodies, complicating functional studies .

  3. Tissue-Specific Optimization: Antibodies perform variably across species (e.g., murine vs. human) .

Product Specs

Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Lead Time
Typically, we can ship products within 1-3 business days after receiving your orders. Delivery times may vary depending on the purchasing method or location. Please consult your local distributors for specific delivery details.
Synonyms
FRMD7FERM domain-containing protein 7 antibody
Target Names
FRMD7
Uniprot No.

Target Background

Function
FRMD7 Antibody plays a crucial role in neurite development, potentially through the activation of the GTPase RAC1. It also contributes to the control of eye movement and gaze stability.
Gene References Into Functions
  1. A novel mutation in the FRMD7 gene, identified as a G to T transition (c.886G>T) in exon 9, has been linked to idiopathic congenital nystagmus. This mutation results in a conservative substitution of glycine to cysteine at codon 296. PMID: 30015830
  2. These findings have expanded the understanding of gene mutations associated with FRMD7. PMID: 28656292
  3. Infantile nystagmus syndrome with FRMD7 mutations in our cases was primarily caused by de novo and missense mutations. PMID: 28623544
  4. Our findings provide valuable insights into FRMD7 mutations, which may be beneficial for future genetic diagnosis and counseling of Chinese patients with nystagmus. PMID: 27036142
  5. We have also observed abnormal developments in the afferent system of patients with FRMD7 mutations using optical coherence tomography, which may shed light on the etiological factors contributing to nystagmus development. PMID: 26268155
  6. This study adds a novel mutation (p.I240T) to the existing spectrum of FRMD7 mutations associated with Congenital, X-Linked Nystagmus. PMID: 24169426
  7. We report three novel mutations in FRMD7 in three independent families with XLICN, providing molecular insights for future XLICN diagnosis and treatment. PMID: 24434814
  8. A novel mutation c.556A>G (p.M186V) in the gene FRMD7 has been identified as the cause of X-linked idiopathic congenital nystagmus in a North Indian family. PMID: 25916882
  9. We investigated the role of mutations and copy number variations (CNV) of FRMD7 and GPR143 in the molecular pathogenesis of IIN in 49 unrelated Belgian probands. PMID: 25678693
  10. Abnormal retinal development is associated with FRMD7 mutations. PMID: 24688117
  11. A nonsense mutation (R335X) in the FRMD7 gene was identified in 4 male patients and an asymptomatic female member. PMID: 24513357
  12. FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling. PMID: 23967341
  13. Our results expand the spectrum of FRMD7 mutations associated with XLICN, further confirming that FRMD7 mutations are the underlying molecular mechanism for XLICN. PMID: 23733424
  14. A model proposes that CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during the development of the oculomotor neural network, and that defects in this interaction lead to nystagmus. PMID: 23406872
  15. The identified FRMD7 mutant influences GTPase Rac1 signaling, which regulates neurite development. PMID: 23946638
  16. A novel missense mutation, c.A917G, was found in family members with congenital nystagmus. PMID: 22490987
  17. A novel splicing mutation, (c.163-1 G>T), was detected in the region preceding exon 3 of FRMD7 in a Chinese family with X-linked congenital nystagmus. PMID: 22262942
  18. A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain. PMID: 22128244
  19. A previously unreported 4 base-pair deletion in the FRMD7 gene (c.1486-1489 del. TTTT) causing X-linked idiopathic congenital nystagmus has been identified in a Chinese family. PMID: 22065930
  20. Clinicians can utilize the OKN drum to assess obligate female carriers in families suspected of having X-linked nystagmus. PMID: 21746984
  21. A novel mutation, c. 623A>G (p. H208R) in the FRMD7 gene, was identified in a Han Chinese family with infantile nystagmus. PMID: 21365021
  22. Differences in nystagmus characteristics associated with albinism and those associated with FRMD7 mutations leading to idiopathic infantile nystagmus have been described for the first time. PMID: 21220551
  23. FRMD7 may play a significant role in the brainstem during the early stages of human fetal brain development, providing clues for the mechanism of mutation FRMD7, which may be involved in influencing F-actin dynamics. PMID: 21386928
  24. This study demonstrated that mutations in FRMD7 can cause idiopathic infantile periodic alternating nystagmus and may affect neuronal circuits implicated in acquired forms. PMID: 21303855
  25. This research shows for the first time that large intragenic deletions of FRMD7 can also cause this form of nystagmus. PMID: 20450309
  26. FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development. PMID: 19892780
  27. Restricted expression of FRMD7 in human embryonic brain and developing neural retina suggests a specific role in the control of eye movement and gaze stability. PMID: 17013395
  28. This report details five novel mutations in FRMD7 and confirms the role of this gene in the pathogenesis of X-linked congenital nystagmus. PMID: 17397053
  29. These results provide further evidence for mutations in FRMD7 as a common cause of X-linked congenital motor nystagmus and expand its mutation spectrum. PMID: 17768376
  30. We have demonstrated that phenotypic variation of nystagmus occurs in families with FRMD7 mutations. PMID: 17846367
  31. Mutation screening in the FRMD7 gene identified two novel missense mutations (c.781C>G and c.886G>C) and one reported nonsense mutation (c.1003C>T). PMID: 17893669
  32. A novel p.R229G missense mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X-linked NYS females. PMID: 17962394
  33. The c.425T>G change is predicted to result in the missense substitution of the leucine at codon 142 for an arginine (p.L142R), supporting a causative role for FRMD7 mutations in the pathogenesis of X-linked idiopathic infantile nystagmus. PMID: 18087240
  34. Sequencing FRMD7 revealed a G>T transversion (c.812G>T) in exon 9, which caused a conservative substitution of Cys to Phe at codon 271 (p.C271F). PMID: 18246032
  35. The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for a family with congenital nystagmus. PMID: 18247295
  36. This is the first report that five kinds of FRMD7 gene mutation types occurred in Chinese families with Infantile nystagmus (IN), further supporting that FRMD7 gene mutations are the underlying pathogenesis of the molecular mechanism for IN. PMID: 18431453
  37. A novel frameshift mutation (c.1274-1275delTG) in the FRMD7 gene was identified in six X-linked idiopathic congenital nystagmus pedigrees in China. PMID: 19072571
  38. X-linked recessive congenital motor nystagmus mapped to a region overlapping with that for the X-linked dominant form. PMID: 16240070

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Database Links

HGNC: 8079

OMIM: 300628

KEGG: hsa:90167

STRING: 9606.ENSP00000298542

UniGene: Hs.170776

Involvement In Disease
Nystagmus congenital X-linked 1 (NYS1)
Subcellular Location
Cell projection, neuron projection. Cell projection, growth cone.
Tissue Specificity
Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.

Q&A

What is FRMD7 and why is it significant in vision research?

FRMD7 (FERM Domain Containing 7) is a protein associated with Idiopathic Infantile Nystagmus (IIN), an early-onset oculomotor disorder characterized by involuntary eye movements. The significance of FRMD7 in vision research stems from its restricted expression in starburst amacrine cells of the retina, which play a crucial role in direction-selective circuitry. Mutations in FRMD7 lead to specific horizontal optokinetic reflex defects, making it an important target for understanding directional vision mechanisms. When designing experiments with FRMD7 antibodies, researchers should consider both retinal and brain expression patterns, as FRMD7 has been reported in multiple neural tissues .

How does FRMD7 protein function at the cellular level?

FRMD7 protein is believed to function in signal transduction between the plasma membrane and cytoskeleton, similar to other FERM domain-containing proteins like FARP1 and FARP2. The presence of ezrin/radixin/moesin proteins in FRMD7 supports its hypothesized association with the plasma membrane of neurons, potentially acting as a guidance mechanism for neuronal growth and development. For antibody-based studies, it's important to target epitopes that don't interfere with these functional domains to maintain native protein interactions in co-immunoprecipitation experiments .

What are the primary expression sites of FRMD7 relevant for antibody studies?

In human embryonic tissues, FRMD7 expression has been reported in the brain and developing neural retina. In adult humans, expression occurs in kidney, liver, pancreas, and at lower levels in heart and brain. In murine models, Frmd7 expression has been specifically localized to starburst amacrine cells of the retina, as well as various brain regions including hippocampus, cerebellum, cortex, and olfactory bulb. When selecting FRMD7 antibodies, researchers should verify specificity for these tissue types and consider species cross-reactivity if planning comparative studies .

What criteria should researchers use when selecting antibodies for FRMD7 detection?

When selecting antibodies for FRMD7 detection, researchers should consider:

  • Epitope location: Antibodies targeting conserved regions across species facilitate cross-species studies

  • Validation methods: Preference for antibodies validated using knockout controls

  • Application compatibility: Confirm suitability for intended applications (IHC, WB, IF, IP)

  • Species reactivity: Ensure compatibility with your experimental model

  • Clonality: Monoclonal antibodies offer higher specificity while polyclonal provides stronger signals

Research has highlighted challenges with reliability of murine Frmd7 antibodies, suggesting verification with alternative detection methods such as X-gal staining in reporter models is prudent for result confirmation .

How can researchers validate FRMD7 antibody specificity?

Validation of FRMD7 antibody specificity should employ multiple approaches:

  • Knockout/knockdown controls: Use of Frmd7.tm1a or Frmd7.tm1b mouse models as negative controls

  • Peptide competition assays: Pre-incubation with immunizing peptide should abolish specific signals

  • Multi-method confirmation: Compare antibody results with in situ hybridization or X-gal staining in reporter models

  • Western blot verification: Confirm band at expected molecular weight (approximately 80-85 kDa)

  • Cross-reactivity testing: Screen against closely related proteins (especially FARP1/2)

Research has shown that even in models with detectable Frmd7 transcript levels (like Frmd7.tm1a), protein may not be detected by immunohistochemistry, highlighting the importance of parallel validation methods .

How should researchers design co-localization studies with FRMD7 antibodies in retinal tissue?

For co-localization studies with FRMD7 antibodies in retinal tissue:

  • Select appropriate cell markers: ChAT antibodies effectively identify starburst amacrine cells where FRMD7 is expressed

  • Tissue preparation considerations: Use either wholemount preparations or 12-14μm sections for optimal visualization

  • Confocal microscopy settings: Employ sequential scanning to prevent bleed-through between fluorophores

  • Controls: Include wild-type positive controls alongside Frmd7 knockout models (Frmd7.tm1a or Frmd7.tm1b)

  • Quantification methods: Apply colocalization coefficients (Pearson's or Mander's) for objective analysis

Studies have successfully demonstrated colocalization between ChAT and Frmd7 proteins in the ganglion cell layer and inner nuclear layer of wild-type retinas, while this colocalization is absent in Frmd7 mutant retinas .

What are the key considerations when using FRMD7 antibodies to study synaptogenesis in the retina?

When using FRMD7 antibodies to study synaptogenesis in the retina:

  • Developmental timing: Include multiple time points from early postnatal development through adulthood

  • Complementary synaptic markers: Include markers such as:

    • Synaptophysin (presynaptic)

    • PSD95 (postsynaptic)

    • VAChT (vesicular acetylcholine transporter)

    • GAD65/67 (GABAergic markers)

    • VGAT (vesicular GABA transporter)

  • High-resolution imaging: Super-resolution techniques may be required to visualize synaptic details

  • Serial section analysis: Comprehensive mapping of synaptic connections requires 3D reconstruction

  • Quantitative analysis: Measure synaptic density and synaptic marker intensity

Research suggests that despite FRMD7 mutation affecting direction selectivity, the basic synaptic architecture of retinas appears intact, with no obvious abnormalities in synaptic marker expression in adult (P120) retinas of Frmd7 mutant mice .

How can researchers correlate FRMD7 expression with functional deficits in animal models?

To correlate FRMD7 expression with functional deficits:

  • Comprehensive phenotyping approach:

    • High-speed eye tracking recordings for optokinetic reflex assessment

    • Electroretinography (ERG) for retinal function evaluation

    • Optical coherence tomography (OCT) for structural analysis

  • Age-dependent analysis:

    • Include multiple developmental time points (early postnatal through adult)

    • Assess before age-related degeneration occurs (e.g., P120 in mice)

  • Correlation methods:

    • Directly compare protein expression levels with severity of horizontal OKR deficits

    • Statistical models to account for individual variability

Research with Frmd7.tm1a and Frmd7.tm1b models has confirmed specific horizontal optokinetic reflex defects while showing no differences in ERG or OCT parameters compared to wild-type mice, suggesting FRMD7's role is specific to directional selectivity rather than general retinal function .

What strategies should be employed when using FRMD7 antibodies in developmental studies?

For developmental studies with FRMD7 antibodies:

  • Embryonic stage selection:

    • Include critical periods of retinal development

    • Focus on timepoints when direction-selective circuits form

  • Fixation protocol optimization:

    • Brief fixation (4% PFA, 15-20 min) for embryonic tissues

    • Cryoprotection with sucrose gradients for section integrity

  • Epitope retrieval considerations:

    • May be necessary for highly fixed tissues

    • Test multiple methods to determine optimal protocol

  • Amplification systems:

    • Consider tyramide signal amplification for low abundance detection

    • Quantum dot conjugates for multiplexed imaging

  • Quantification approach:

    • Age-matched controls processed simultaneously

    • Blinded analysis of expression patterns

Developmental studies are particularly valuable as FRMD7 has been implicated in neuronal growth and guidance mechanisms during retinal development .

How should researchers address non-specific binding issues with FRMD7 antibodies?

To address non-specific binding issues:

  • Blocking optimization:

    • Test different blocking agents (BSA, normal serum, commercial blockers)

    • Consider species-matched serum from which secondary antibody was raised

    • Extend blocking time (2+ hours) for problematic tissues

  • Antibody dilution series:

    • Perform titration experiments to identify optimal concentration

    • Consider higher dilutions with extended incubation times

  • Washing protocol enhancement:

    • Increase number and duration of washes

    • Add low concentrations of detergent (0.1-0.3% Triton X-100)

  • Alternative detection systems:

    • Compare directly labeled primary antibodies with secondary detection

    • Test different secondary antibody sources

Research has noted non-specific binding patterns in the outer plexiform layer with some anti-murine Frmd7 antibodies. These patterns were not previously reported and likely represent non-specific binding since no colocalization with ChAT was observed in this layer .

What are potential causes and solutions for discrepancies between mRNA and protein detection in FRMD7 studies?

For discrepancies between mRNA and protein detection:

Potential CauseDiagnostic ApproachSolution Strategy
Low translation efficiencyqPCR vs. Western blot comparisonUse more sensitive detection methods (e.g., proximity ligation assay)
Post-translational regulationProteasome inhibitor treatmentInclude proteasome/degradation pathway inhibitors in sample prep
Antibody sensitivity limitationsSerial dilution of recombinant protein detectionTry alternative antibodies or amplification systems
Splice variant specificityRT-PCR with multiple primer setsDesign antibodies targeting shared exons
Epitope maskingMultiple antibodies targeting different regionsUse denaturing conditions or epitope retrieval

Research with Frmd7.tm1a mice demonstrated that despite the presence of low levels of wild-type transcript, Frmd7 protein was not detectable by immunohistochemistry, highlighting the importance of investigating these discrepancies .

How can new technologies enhance FRMD7 antibody-based research?

Emerging technologies for FRMD7 antibody research include:

  • CRISPR-engineered reporter systems:

    • Endogenous tagging of FRMD7 with fluorescent proteins

    • Creation of inducible expression systems for temporal control

  • Advanced imaging applications:

    • Light-sheet microscopy for rapid whole-tissue imaging

    • Expansion microscopy for nanoscale resolution of protein localization

    • STORM/PALM super-resolution for synaptic detail visualization

  • Proteomics integration:

    • Proximity labeling (BioID, APEX) to identify interaction partners

    • Mass spectrometry for post-translational modification mapping

  • Single-cell approaches:

    • Antibody-based FACS sorting of FRMD7-expressing cells

    • Single-cell proteomics to analyze cell-specific expression patterns

These approaches could significantly advance understanding of FRMD7's role in direction-selective circuitry and the pathophysiology of infantile nystagmus .

What methodological questions remain unresolved in FRMD7 antibody research?

Unresolved methodological questions include:

  • Species-specific differences:

    • How do human and mouse FRMD7 antibody epitopes compare?

    • Are there functional differences in protein interactions between species?

  • Temporal dynamics:

    • What techniques can capture the dynamic regulation of FRMD7 during activity?

    • How do activity-dependent changes affect antibody binding?

  • Isoform specificity:

    • Can antibodies distinguish between potential splice variants?

    • How do different isoforms contribute to cell-specific functions?

  • Mechanistic insights:

    • What methodologies can determine how FRMD7 modulates signaling between plasma membrane and actin cytoskeleton?

    • How can antibodies help elucidate interactions with Rho GDP-dissociation inhibitor alpha?

  • Translation to therapy:

    • Can antibody-based imaging help monitor therapeutic interventions?

    • What biomarkers correlate with functional recovery in intervention studies?

Further research into these questions may provide deeper insights into the mechanism by which FRMD7 modulates signaling in starburst amacrine cells and the pathophysiology of idiopathic infantile nystagmus .

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