HUWE1

该基因编码一种蛋白质,该蛋白质包含一个作为e3泛素连接酶的c末端hect(e6ap型e3泛素蛋白连接酶)结构域。编码蛋白是泛素化和随后降解抗凋亡蛋白Mcl1(髓细胞白血病序列1(BCL2相关))所必需的这种蛋白也泛素化p53肿瘤抑制因子、核心组蛋白和DNA聚合酶β该基因突变与特纳型x连锁综合征认知功能障碍有关。[由RefSeq提供,2013年8月]
This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]

别名

MULE,Ib772,LASU1,MRXST,UREB1,HECTH9,URE-B1,ARF-BP1,HSPC272

基因id

Chromosome:X Start: 53559057 End: 53713697 Strand: 

药物

突变与药物

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