ERCC4 [SEP] found in taxon
of mice, and no human individuals have been found with complete (homozygous) deletion of "ERCC4". Rare individuals in the human population harbor inherited mutations that impair the function of "ERCC4". When the normal genes are absent, these mutations can lead to human syndromes, including xeroderma pigmentosum, Cockayne syndrome and Fanconi anemia.
"ERCC1" and "ERCC4" are the human gene names and "Ercc1" and "Ercc4" are the analogous mammalian gene names. Similar genes with similar functions are found in
in 65 out of 66 cases. In 16 cancers Pms2 was deficient even though MLH1 protein expression was present. Of these 16 cases, no cause was determined for 10, but 6 were found to have a heterozygous germline mutation in Pms2, followed by likely loss of heterozygosity in the tumor. Thus only 6 of 119 tumors lacking expression for Pms2 (5%) were due to mutation of PMS2.
Clinical significance Coordination with ERCC1 and ERCC4 (XPF).
When PMS2 is reduced in colonic crypts in a field defect