这个基因编码WD重复蛋白家族的一个成员。WD重复是大约40个氨基酸的最小保守区域,通常由GLY HIT和Trp ASP(GH-WD)残基包围,这可能促进异源三聚体或多蛋白复合物的形成。该家族成员参与多种细胞过程,包括细胞周期的进展、信号转导、凋亡和基因调控。该蛋白含有2个溴脱氧核糖和多个WD重复序列该基因位于21号染色体唐氏综合征2区。该基因的选择性剪接产生编码不同亚型的多个转录变体在小鼠中,该基因编码一种核蛋白,该核蛋白含有多聚谷氨酸,作为一个转录激活域,可以调节染色质重塑,并与swi/snf染色质重塑复合物的一个成分相关联。[由refseq提供,2011年6月]
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

基因名:BRWD1
别名:N143,WDR9,WRD9,DCAF19,C21orf107
基因ID:54014
Chromosome:
(GRCh37)
21 Start: 40556102 End: 40685745 Strand: 
信号通路:  
BRWD1 基因突变与药物

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