NCIt synonyms : FLHS; Domino Homolog 1 (Drosophila) Gene; SWR1, S. cerevisiae, Homolog of Gene; Snf2 Related CREBBP Activator Protein wt Allele; Swi2/Snf2-Related ATPase Homolog (S. cerevisiae) Gene; SWR1; Swi2/Snf2-Related ATPase Homolog, Domino Homolog 1 Gene; DOMO1; DEHMBA; EAF1; Snf2-Related CBP Activator Protein Gene; Snf2-Related CREBBP Activator Protein Gene; KIAA0309;
NCIt definition : Human SRCAP wild-type allele is located in the vicinity of 16p11.2 and is approximately
43 kb in length. This allele, which encodes helicase SRCAP protein, is involved in
the incorporation of the histone variant H2A.Z into nucleosomes. Mutation of the gene
is associated with Floating-Harbor syndrome and DEHMBA (developmental delay, hypotonia,
musculoskeletal features, and behavioral abnormalities).;
OMIM relation