DISEASES

Disease-gene associations mined from literature

Literature associating C5orf45 and X-linked reticulate pigmentary disorder

C5orf45 [ENSP00000292586]

Chromosome 5 open reading frame 45; Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex. Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair.

Synonyms:  C5orf45,  C5orf45p,  hC5orf45,  B7Z1T6,  C5ORF45 ...

Linkouts:  STRING  Pharos  UniProt