POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Xeroderma Pigmentosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.010 AlteredExpression disease BEFREE Both factors activate the two DNA damage sensors ataxia telangiectasia and Rad3-related and ataxia telangiectasia mutated, enhance DNA damage recognition by reducing soluble nuclear and chromatin-bound DNA damage binding protein 2, and increase total and chromatin-bound xeroderma pigmentosum (XP) C. Additionally, α-MSH and End-1 increase total levels and chromatin localization of the damage verification protein XPA, and the levels of γH2AX, which facilitates recruitment of DNA repair proteins to DNA lesions. 31505093 2020