There is abundant evidence published associating the ERCC5 gene with xeroderma pigmentosum group G since the gene-disease relationship was first proposed by Nouspikel and Clarkson (1994). Multiple case level studies have been performed with XPG patients that have variants in the ERCC5 gene. 8 complementation groups genes (XPA, XPB, XPC, XPD, XPE, XPF, XPG, and XP variant (XPV)) in Nucleotide excision repair (NER) pathway were reported to cause Xeroderma Pigmentosum. Multiple xpg deficient mouse models have been established to show consistent phenotypes with XPG patients, including growth retardation, short life span and highly sensitive to UV light. All of these types of All of these types of evidence are consistent with a definitive relationship between the ERCC5 gene and xeroderma pigmentosum group G.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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