Disease-gene associations mined from literature

Literature associating XPA and autosomal genetic disease

XPA [ENSP00000364270]

Xeroderma pigmentosum group A-complementing protein; Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation; Belongs to the XPA family.

Synonyms:  XPA,  F2Z2T2,  P23025,  F2Z2T2p,  hF2Z2T2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM