BRCC3

Official Full Name

BRCA1/BRCA2-containing complex, subunit 3

Background

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.

Synonyms

BRCC3; BRCA1/BRCA2-containing complex, subunit 3; chromosome X open reading frame 53 , CXorf53; lys-63-specific deubiquitinase BRCC36; BRCC36; C6.1A; BRCA1-A complex subunit BRCC36; BRCA1/BRCA2 containing complex subunit 3; BRCA1/BRCA2 containing complex subunit 36; BRCA1/BRCA2-containing complex subunit 3; BRCA1/BRCA2-containing complex subunit 36; BRCC3_HUMAN; BRISC complex subunit BRCC36; Chromosome X open reading frame 53; CXorf53; OTTHUMP00000061450; OTTHUMP00000024245; OTTHUMP00000024246; OTTHUMP00000196187; OTTHUMP00000196188; RP11-143H17.2