Gene Symbol | SRCAP |
Entrez Gene ID | 10847 |
Full Name | Snf2 related CREBBP activator protein |
Synonyms | DOMO1,EAF1,FLHS,SWR1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Floating-Harbor syndrome, 136140 (3) |