EZH1

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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 3 with global developmental delay, abnormal muscle tone and movement, and light pigmentation of the hair and skin (hypopigmentation) (read full description).

Date of Report

Jul 22, 2019

Full Name

enhancer of zeste 1, polycomb repressive complex 2 subunit

Location
Chromosome 17 (17q21.2)


Function

The EZH1 gene codes for a protein important in the maintenance of embryonic stem cell pluripotency. This protein plays a role in transcriptional silencing (Shen, et al., 2008).

Database Links

GeneCards: GC17M042700

NCBI Gene: 2145 

OMIM: 601674

UniProtKB/Swiss-Prot: Q92800

Clinical Significance

A de novo change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene EZH1
Inheritance Pattern De novo
Position Chr17:40855823
Transcript NM_001991.3
DNA Change c.2033C>G
Protein Change p.A678G
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