SLC16A12 Antibody, Biotin conjugated
Description
Definition and Target Specificity
SLC16A12 is a proton-linked monocarboxylate transporter involved in the rapid transport of small organic molecules across plasma membranes . The biotin-conjugated antibody targets specific epitopes of this protein, enabling its detection in experimental assays.
Key Features:
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Immunogen: Synthetic peptides corresponding to regions of human SLCLC16A12 (e.g., N-terminal region: residues WMIVAGCFLVTICTRAVTRCISIFFVEFQTYFTQDYAQTAWIHSIVDCVT) .
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Conjugate: Biotin, facilitating detection via streptavidin-HRP or streptavidin-fluorophore systems .
Applications and Performance
This antibody is validated for multiple applications:
Cross-Reactivity Notes:
Research and Clinical Relevance
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Disease Associations: SLC16A12 mutations are linked to juvenile cataracts due to impaired protein trafficking . The biotin-conjugated antibody has been used to study truncated SLC16A12 (p.Q215X) retained in the endoplasmic reticulum, contrasting with wild-type protein localized to the plasma membrane .
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Functional Insights: Confirmed dependency on CD147 for cell surface trafficking, a common feature of monocarboxylate transporters .
Validation and Quality Control
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Immunohistochemistry: Verified in human kidney and cancer tissues .
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Controls: Recommended blocking peptide available for specificity validation .
Limitations and Considerations
Product Specs
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Target Background
- A study screened the coding exons of the SLC16A12 gene in 877 patients. The impact of these variants on creatine transport was examined in Xenopus laevis oocytes and human HEK293T cells. Four variants (p.Ser158Pro, p.Gly205Val, p.Pro395Gln and p.Ser453Arg) demonstrated significant reduction in creatine transport in both model systems. These findings provide valuable insights into the molecular requirements of creatine transport. PMID: 29088427
- Research findings indicate that MCT12 acts as a basolateral exit pathway for creatine in the proximal tubule. Heterozygous mutation of MCT12 influences systemic levels and renal handling of guanidinoacetate, possibly through an indirect mechanism. Furthermore, the study identified a digenic syndrome in the index family, characterized by simultaneous MCT12 and SGLT2 mutations. This observation suggests that glucosuria is not a component of the MCT12 mutation syndrome. PMID: 26376857
- A study identified a second creatine transporter, monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12. Results indicate that SLC6A8 is predominantly found in brain, heart and muscle, while SLC16A12 is more abundant in kidney and retina. The two transcripts were found at comparable levels in the lens. PMID: 23578822
- The monocarboxylate transporter SLC16A12 may play a role in age-related cataract. Sequences within the 5'UTR modulate translational efficiency, potentially leading to pathogenic consequences. PMID: 20181839
- An observational study of gene-disease association. (HuGE Navigator) PMID: 20181839
- SLC16A12 is crucial for lens and kidney homeostasis. Its potential role in age-related cataract is discussed. PMID: 18304496
- Observational study of gene-disease association. (HuGE Navigator) PMID: 16385451
