SRCAP (Entrez ID: 10847)

Entrez Gene ID 10847
Official Gene Symbol SRCAP (GeneCards)
Full name Snf2 related CREBBP activator protein
Location 16p11.2
Other ids Vega : OTTHUMG00000132393
MIM : 611421
HGNC : HGNC:16974
Ensembl : ENSG00000080603
Other names EAF1, FLHS, SWR1, DOMO1
Summary This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

Variants

Found 1 variant in this database.