Mediator Complex Subunit 13-Like

Alternative Names

MED13L
Thyroid Hormone Receptor-Associated Protein 2
THRAP2
Protein Similar To TRAP240
Prosit240
TRAP240-Like Protein
TRAP240L
KIAA1025

Length

319,118 bases

No. of Exons

No. of isoforms

Protein Name

Mediator of RNA polymerase II transcription subunit 13-like

Molecular Mass

242602 Da

Amino Acid Count

2210

Genomic Location

chr12:115,958,575-116,277,692

Gene Map Locus

12q24.21

Description

The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[From RefSeq]

Epidemiology in the Arab World

View Map

United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_015335.4:c.4120del	United Arab Emirates	NC_000012.12:g.115986485del	Pathogenic	Likely Pathogenic	Impaired Intellectual Development and Distinctive Facial Features with or without Cardiac Defects	NG_023366.1:g.295703del; NM_015335.4:c.4120del; NP_056150.1:p.Glu1374LysfsTer14	1877698147	984812

Download Table

External Links

https://medlineplus.gov/genetics/gene/med13l/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=med13l

Contributors

Pratibha Nair: 26.09.2021

Edit History

Pratibha Nair: 26.09.2021

Back to search Result