Product Details

Uniprot No.

Target Names

MED13L

Alternative Names

MD13L_HUMAN antibody; MED13L antibody; Mediator complex subunit 13 like antibody; Mediator complex subunit 13-like antibody; Mediator of RNA polymerase II transcription subunit 13-like antibody; THRAP2 antibody; Thyroid hormone receptor-associated protein 2 antibody; Thyroid hormone receptor-associated protein complex 240 kDa component-like antibody; TRAP240L antibody

Raised in

Rabbit

Species Reactivity

Human,Mouse

Immunogen

Synthesized peptide derived from the Internal region of Human TRAP240.

Immunogen Species

Homo sapiens (Human)

Conjugate

Non-conjugated

Isotype

IgG

Purification Method

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Form

Liquid

Tested Applications

WB, IHC, ELISA

Recommended Dilution

Application	Recommended Dilution
WB	1:500-1:2000
IHC	1:100-1:300
ELISA	1:10000

Protocols

Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
ELISA Protocol

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Background

Function

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.

Gene References into Functions

Our findings suggest that MED13L-related disorders are a possible differential diagnosis for syndromic PRS. PMID: 29159987
MED13L truncating mutation and missense mutation were identified in two patients with facial resemblance to Kleefstra syndrome as a novel differential diagnosis. PMID: 28645799
A new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. In two new cases, one missense variant and one nonsense mutation were found in the MED13L gene. PMID: 27500536
Two siblings exhibited an intragenic deletion involving exons 3-14, which led to an in-frame deletion in MED13L. The deletion was inherited from their carrier mother who possessed low frequency mosaicism. The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with MED13L haploinsufficiency syndrome PMID: 28371282
Heterozygous MED13L variants cause transposition of the great arterie. PMID: 25758992
Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype PMID: 25712080
A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7. PMID: 25249183
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. PMID: 25137640
Description of three patients with copy number changes affecting MED13L and delineation of a recognizable MED13L haploinsufficiency syndrome. PMID: 23403903
We show that the Mediator complex subunit MED13L is required for Rb/E2F control of cell growth, the complete repression of cell cycle target genes, and cell cycle inhibition. PMID: 22249253
PROSIT240 shows significant homology to the nuclear receptor coactivator TRAP240, suggesting it to be a new component of the thyroid hormone receptor-associated protein (TRAP) complex. PROSIT240 is involved in early heart and brain development. PMID: 14638541
Transcripts were most abundant in skeletal muscle. PMID: 15145061

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Involvement in disease

Transposition of the great arteries dextro-looped 1 (DTGA1); Mental retardation and distinctive facial features with or without cardiac defects (MRFACD)

Subcellular Location

Nucleus.

Protein Families

Mediator complex subunit 13 family

Tissue Specificity

Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.

Database Links

HGNC: 22962

OMIM: 608771

KEGG: hsa:23389

STRING: 9606.ENSP00000281928

UniGene: Hs.603766