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SRCAP
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SRCAP

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Reviewed December 2012

What is the official name of the SRCAP gene?

The official name of this gene is “Snf2-related CREBBP activator protein.”

SRCAP is the gene's official symbol. The SRCAP gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SRCAP gene?

The SRCAP gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP. The protein produced from the CREBBP gene, called CREB binding protein, plays a key role in regulating cell growth and division and is important for normal development.

How are changes in the SRCAP gene related to health conditions?

Floating-Harbor syndrome - caused by mutations in the SRCAP gene

At least five SRCAP gene mutations have been identified in people with Floating-Harbor syndrome, a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The SRCAP gene mutations that cause Floating-Harbor syndrome may result in an altered protein that interferes with normal activation of the CREBBP gene, resulting in problems in development. However, the relationship between SRCAP gene mutations and the specific signs and symptoms of Floating-Harbor syndrome is unknown.

Where is the SRCAP gene located?

Cytogenetic Location: 16p11.2

Molecular Location on chromosome 16: base pairs 30,710,461 to 30,751,449

The SRCAP gene is located on the short (p) arm of chromosome 16 at position 11.2.

The SRCAP gene is located on the short (p) arm of chromosome 16 at position 11.2.

More precisely, the SRCAP gene is located from base pair 30,710,461 to base pair 30,751,449 on chromosome 16.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SRCAP?

You and your healthcare professional may find the following resources about SRCAP helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SRCAP gene or gene products?

  • domino homolog 2
  • DOMO1
  • EAF1
  • FLHS
  • helicase SRCAP
  • KIAA0309
  • Snf2-related CBP activator protein
  • SRCAP_HUMAN
  • Swi2/Snf2-related ATPase homolog, domino homolog 1
  • SWR1

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SRCAP?

cell ; gene ; helicase ; homologs ; mutation ; protein ; short stature ; sign ; stature ; symptom ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: December 2012
Published: February 11, 2013