DISEASES

Disease-gene associations mined from literature

Literature associating FANCD2 and congenital hypoplastic anemia

FANCD2 [ENSP00000287647]

Fanconi anemia, complementation group D2; Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching; Armadillo-like helical domain containing

Synonyms:  FANCD2,  FANCD2p,  hFANCD2,  A0A024R2G2,  F8WE37 ...

Linkouts:  STRING  Pharos  UniProt  OMIM