人 BRCC3 (NM_024332) cDNA克隆

Accession: NM_024332
基因名称: BRCC3
基因别名: C6.1A; BRCC36; CXorf53; RP11-143H17.2
基因描述: Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.
种属: Human
CDS区长度: 951 (查看编码区序列)
翻译后氨基酸长度: 316 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
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G114845 人 BRCC3 (NM_024332) cDNA克隆 pDONR223 2ug质粒 点击询价

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]