基因名称：SRCAP （Snf2 related CREBBP activator protein）
别名： EAF1,FLHS,SWR1,DOMO1
基因ID：10847
Chromosome(GRCh37) ：16 Start: 30709571 End: 30751450 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码多蛋白染色质重塑SRCAP复合物的核心催化成分编码的蛋白质是一种atp酶，是将组蛋白变体h2a.z并入核小体所必需的。它在notch介导、creb介导和类固醇受体介导的转录中起转录激活作用。这种基因的突变会导致浮港综合症，一种罕见的疾病，其特征是身材矮小、语言缺陷和面部畸形[ RefSeq，FEB 2012 ]提供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]
SRCAP突变与药物：
