The ercc4 gene encodes a DNA repair endonuclease involved in nucleotide excision repair, specifically functioning as a subunit of the ERCC1-XPF complex that makes the 5' incision during DNA damage remo...[+]

The ercc4 gene encodes a DNA repair endonuclease involved in nucleotide excision repair, specifically functioning as a subunit of the ERCC1-XPF complex that makes the 5' incision during DNA damage removal. In embryos, its expression is detected in the brain, cranial neural crest, eye, otic vesicle, branchial arches, somites, and tailbud. The protein localizes to the nucleus where it facilitates the repair of DNA interstrand crosslinks. [-]

             XFE progeroid syndrome
             esophageal atresia/tracheoesophageal fistula
             xeroderma pigmentosum group F
             Fanconi anemia complementation group Q
             Fanconi anemia

          XFE PROGEROID SYNDROME; XFEPS
          FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ
          TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD