SRCAP

On this page, you will find information about a genetic change that was identified in a UDN participant.

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 8 with Floating Harbor syndrome (read full description).

Date of Report

Dec 22, 2016

Full Name

Snf2 related CREBBP activator protein

Location
Chromosome 16 (16p11.2)
SRCAP-chr16.png

Function

The SRCAP gene codes for a protein that helps to activate a gene called CREBBP. The protein produced from the CREBBP gene plays a role in regulating cell growth and division (Genetics Home Reference).

Database Links

GeneCards: GC16P030700

Genetics Home Reference: SRCAP gene

NCBI Gene: 10847

OMIM: 611421

UniProtKB/Swiss-Prot: Q6ZRS2

Clinical Significance

Changes in this gene have been found in individuals with Floating Harbor syndrome.

A change in this gene was also identified in UDN participant with features of this condition.

Gene SRCAP
Inheritance Pattern Autosomal dominant
Position chr16: 30748664
Transcript NM_006662
DNA Change c.7303C>T
Protein Change p.R2435X
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