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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 feeding issues, delayed bone age, chronic ear infections, & sleep apnea (Floating Harbor syndrome, OMIM 136140) (read full description).

Date of Report

Dec 22, 2016

Full Name

Snf2 related CREBBP activator protein

Location
Chromosome 16 (16p11.2)
Location Image

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 (MedlinePlus Genetics).

Database Links

GeneCards: SRCAP

MedlinePlus Genetics: SRCAP

NCBI Gene: 10847

OMIM: 611421

UniProtKB/Swiss-Prot: Q6ZRS2

Clinical Significance

Changes in this gene have been found in individuals with Floating Harbor syndrome (OMIM 136140).

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

Families affected by this condition have formed a Facebook group to connect with one another and share information. More information about the condition can be found on the National Organization for Rare Disorders (NORD) website.

 

Gene Inheritance Position (hg19) Transcript DNA Change Protein Change
SRCAP Autosomal dominant chr16:g.30748664C>T NM_006662.2 c.7303C>T p.Arg2435Ter
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