DISEASES

Disease-gene associations mined from literature

Literature associating C19orf40 and congenital hypoplastic anemia

C19orf40 [ENSP00000466121]

Fanconi anemia core complex-associated protein 24; Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA.

Synonyms:  C19orf40,  FAAP24,  K7EKQ4,  Q9BTP7,  X6R368 ...

Linkouts:  STRING  Pharos  UniProt