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SRCAP gene
URL of this page: https://medlineplus.gov/genetics/gene/srcap/

SRCAP gene

Snf2 related CREBBP activator protein

Normal Function

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.

Health Conditions Related to Genetic Changes

Floating-Harbor syndrome

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.

More About This Health Condition

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium; Majewski J, Bulman DE, White SM, Boycott KM. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19. Citation on PubMed or Free article on PubMed Central
  • Slupianek A, Yerrum S, Safadi FF, Monroy MA. The chromatin remodeling factor SRCAP modulates expression of prostate specific antigen and cellular proliferation in prostate cancer cells. J Cell Physiol. 2010 Aug;224(2):369-75. doi: 10.1002/jcp.22132. Citation on PubMed
  • Wong MM, Cox LK, Chrivia JC. The chromatin remodeling protein, SRCAP, is critical for deposition of the histone variant H2A.Z at promoters. J Biol Chem. 2007 Sep 7;282(36):26132-9. doi: 10.1074/jbc.M703418200. Epub 2007 Jul 8. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.