MED14

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A hemizygous change in the MED14 was identified in a UDN participant with global developmental delay, eye and vision abnormalities, and gastrointestinal dysmotility.

Date of Report

Jun 10, 2025

Full Name

Mediator Complex Subunit 14

Location

Chromosome X (Xp11.4)

Function

This gene encodes for a protein that is a subunit of the CRSP complex is one component required for sufficient SP1 activation. It is also a component of other multi-subunit complexes related to thyroid hormone receptors. The gene is reported to escape X-inactivation [provided by RefSeq, Jul 2008].

Database Links

GeneCards: MED14

NCBI Gene: 9282

OMIM: 300182

UniProtKB/Swiss-Prot: O60244

Clinical Significance

A hemizygous change in this gene was identified in a UDN participant.

Gene MED14

Inheritance Pattern X-linked inheritance

Position (hg19) chrX:g.40551523G>A

Transcript NM_004229.4

DNA Change c.1892C>T

Protein Change p.Ala631Val

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