Mediator Complex Subunit 11

Alternative Names

MED11
HSPC296

Length

2,180 bases

No. of Exons

Protein Name

Mediator of RNA polymerase II transcription subunit 11

Molecular Mass

13129 Da

Amino Acid Count

117

Genomic Location

chr17:4,731,428-4,733,607

Gene Map Locus

17p13.2

Description

MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II. [From OMIM]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001001683.4:c.325C>T	Saudi Arabia; Tunisia;...	NC_000017.11:g.4733158C>T	Pathogenic	Pathogenic	Neurodegeneration with Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities	NM_001001683.4:c.325C>T; NP_001001683.1:p.Arg109Ter	770295047	2499501

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=MED11

Contributors

Asha Deepthi: 20.03.2025

Edit History

Asha Deepthi: 20.03.2025

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