Recombinant Human Mediator of RNA polymerase II transcription subunit 13-like (MED13L), partial

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Product Specs

Form
Lyophilized powder
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Lead Time
Delivery times vary depending on the purchasing method and location. Please consult your local distributor for precise delivery estimates.
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Notes
Avoid repeated freeze-thaw cycles. Store working aliquots at 4°C for up to one week.
Reconstitution
Centrifuge the vial briefly before opening to collect the contents. Reconstitute the protein in sterile, deionized water to a concentration of 0.1-1.0 mg/mL. For long-term storage, we recommend adding 5-50% glycerol (final concentration) and aliquoting at -20°C/-80°C. Our default glycerol concentration is 50%, provided as a reference.
Shelf Life
Shelf life depends on various factors including storage conditions, buffer composition, temperature, and protein stability. Generally, liquid formulations have a 6-month shelf life at -20°C/-80°C, while lyophilized forms have a 12-month shelf life at -20°C/-80°C.
Storage Condition
Upon receipt, store at -20°C/-80°C. Aliquot for multiple uses to prevent repeated freeze-thaw cycles.
Tag Info
Tag type is determined during manufacturing.
The tag type is determined during the production process. If you require a specific tag, please inform us, and we will prioritize its development.
Synonyms
MD13L_HUMAN; MED13L; Mediator complex subunit 13 like; Mediator complex subunit 13-like; Mediator of RNA polymerase II transcription subunit 13-like; THRAP2; Thyroid hormone receptor-associated protein 2; Thyroid hormone receptor-associated protein complex 240 kDa component-like; TRAP240L
Buffer Before Lyophilization
Tris/PBS-based buffer, 6% Trehalose.
Datasheet
Please contact us to get it.
Protein Length
Partial
Purity
>85% (SDS-PAGE)
Species
Homo sapiens (Human)
Target Names
MED13L
Uniprot No.

Target Background

Function
Mediator complex component, a coactivator regulating transcription of nearly all RNA polymerase II-dependent genes. It acts as a bridge, conveying information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters via interactions with regulatory proteins, serving as a scaffold for preinitiation complex assembly with RNA polymerase II and general transcription factors. This subunit may specifically regulate transcription of Wnt and SHH signaling pathway targets.
Gene References Into Functions
  1. MED13L-related disorders represent a potential differential diagnosis for syndromic premature aging syndromes. PMID: 29159987
  2. MED13L truncating and missense mutations were identified in patients with facial features resembling Kleefstra syndrome, establishing it as a novel differential diagnosis. PMID: 28645799
  3. A new syndrome linked to deleterious MED13L variants has been described, characterized by intellectual disability, hypotonia, and congenital anomalies. Two cases involved a missense variant and a nonsense mutation in MED13L. PMID: 27500536
  4. Two siblings presented with an intragenic deletion (exons 3-14), causing an in-frame deletion in MED13L, inherited from their carrier mother with low-frequency mosaicism. Craniosynostosis, not previously reported in MED13L haploinsufficiency syndrome, was observed in the older sister. PMID: 28371282
  5. Heterozygous MED13L variants are associated with transposition of the great arteries. PMID: 25758992
  6. Integrated genomic data and comprehensive patient clinical evaluation may clarify the genetic heterogeneity of the MED13L haploinsufficiency phenotype. PMID: 25712080
  7. A meta-analysis of genome-wide association studies on blood pressure and hypertension in Chinese populations identified three new loci (CACNA1D, CYP21A2, and MED13L) and a novel variant near SLC4A7. PMID: 25249183
  8. MED13L haploinsufficiency impairs the development of neural crest cell-derived organs and causes intellectual disability. PMID: 25137640
  9. Three patients with copy number variations affecting MED13L were described, defining a recognizable MED13L haploinsufficiency syndrome. PMID: 23403903
  10. MED13L is crucial for Rb/E2F regulation of cell growth, complete repression of cell cycle target genes, and cell cycle inhibition. PMID: 22249253
  11. PROSIT240, homologous to the nuclear receptor coactivator TRAP240, is a potential component of the thyroid hormone receptor-associated protein (TRAP) complex, involved in early heart and brain development. PMID: 14638541
  12. High transcript abundance was observed in skeletal muscle. PMID: 15145061
Database Links

HGNC: 22962

OMIM: 608771

KEGG: hsa:23389

STRING: 9606.ENSP00000281928

UniGene: Hs.603766

Involvement In Disease
Transposition of the great arteries dextro-looped 1 (DTGA1); Mental retardation and distinctive facial features with or without cardiac defects (MRFACD)
Protein Families
Mediator complex subunit 13 family
Subcellular Location
Nucleus.
Tissue Specificity
Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.

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