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    Topic review

    SRCAP Gene

    Subjects: Genetics
    View times: 12
    Submitted by: Rui Liu
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    Snf2 related CREBBP activator protein

    1. 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.

    2. Health Conditions Related to Genetic Changes

    2.1. 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.

    3. 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

    The entry is from https://medlineplus.gov/genetics/gene/srcap

    References

    1. 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, encodingSNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J HumGenet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001.
    2. Slupianek A, Yerrum S, Safadi FF, Monroy MA. The chromatin remodeling factorSRCAP modulates expression of prostate specific antigen and cellularproliferation in prostate cancer cells. J Cell Physiol. 2010 Aug;224(2):369-75.doi: 10.1002/jcp.22132.
    3. Wong MM, Cox LK, Chrivia JC. The chromatin remodeling protein, SRCAP, iscritical for deposition of the histone variant H2A.Z at promoters. J Biol Chem.2007 Sep 7;282(36):26132-9.
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    Keywords