BRCC3 - BRCA1/BRCA2-containing complex subunit 3 Gene

中文名称：含 BRCA1/BRCA2 的复杂亚基 3

种属: Homo sapiens

同用名: C6.1A; BRCC36; CXorf53

关于 BRCC3

功能概要

该基因编码含有 BRCA1-BRCA2 的复合物 (BRCC) 的一个亚基，它是一种 E3 泛素连接酶。该复合物在 DNA 损伤反应中发挥作用，负责 BRCA1 在 DNA 断裂位点的稳定积累。该基因编码的组分可以特异性切割 Lys 63 连接的多聚泛素链，并调节染色质中这些多聚泛素链的丰度。该基因的缺失会导致异常的血管生成，并与烟雾病综合征 (一种脑血管病) 有关。可变剪接导致多个转录本变体。已在 5 号染色体上鉴定出一个相关的假基因。[RefSeq 提供，2011 年 6 月]

This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin Ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]