ZC4H2

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 the ZC4H2 gene was identified in a female, age 10 with developmental delay, joint contractures, seizures, and multiple birth defects (read full description).

Date of Report

Aug 19, 2021

Full Name

zinc finger C4H2-type containing

Location

Chromosome X (Xq11.2)

Function

ZC4H2 codes for a protein that is thought to be involved in the development of the neural system, and also is involved in regulating the expression level of bone morphogenetic protein (Ma et al., 2017).

Database Links

GeneCards: ZC4H2

NCBI Gene: 55906

OMIM: 300897

UniProtKB/Swiss-Prot: Q9NQZ6

Clinical Significance

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

The ZC4H2 Research Foundation is dedicated to supporting individuals and families affected by ZC4H2-related conditions.

Gene ZC4H2

Inheritance Pattern Unknown

Position (hg19) chrX:g.64185692G>A

Transcript NM_018684.3

DNA Change c.53+10513C>T

Protein Change N/A

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