Disease-gene associations mined from literature

Literature associating XPC and Cockayne syndrome

XPC [ENSP00000285021]

Xeroderma pigmentosum group C-complementing protein; Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA- binding activity; Xeroderma pigmentosum complementation groups

Synonyms:  D2CPI9,  D2CPJ1,  D2CPJ3,  D2CPJ8,  D2CPK1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM