該基因編碼多蛋白染色質重塑SRCAP復合物的核心催化成分編碼的蛋白質是一種atp酶,是將組蛋白變體h2a.z并入核小體所必需的。它在notch介導、creb介導和類固醇受體介導的轉錄中起轉錄激活作用。這種基因的突變會導致浮港綜合癥,一種罕見的疾病,其特征是身材矮小、語言缺陷和面部畸形。
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.