DISEASES

Disease-gene associations mined from literature

Literature on BRIP1

BRIP1 [ENSP00000259008]

Fanconi anemia group J protein; DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. ECO:0000269|PubMed:14983014, ECO:0000269|PubMed:16116421,

Synonyms:  BRIP1,  BRIP1p,  hBRIP1,  J3KS24,  J3QKX0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM