Disease-gene associations mined from literature

Literature associating BRIP1 and congenital hypoplastic anemia

BRIP1 [ENSP00000259008]

BRCA1 interacting protein C-terminal helicase 1; 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.

Synonyms:  BRIP1,  BRIP1p,  hBRIP1,  A0A024QZ45,  J3KS24 ...

Linkouts:  STRING  Pharos  UniProt  OMIM