Skin/hair/eye pigmentation, variation in, 1

Common Name(s)

Skin/hair/eye pigmentation, variation in, 1

Genetic Heterogeneity of Variation in Skin/Hair/Eye Pigmentation Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association ({266300}) is determined by variation at the MC1R locus ({155555}) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 ({601800}) encompasses pigment variation influenced by the TYR gene ({606933}); SHEP4 ({113750}), that influenced by the SLC24A5 gene ({609802}). Variation in the SLC45A2 ({606202}) and SLC24A4 ({609840}) genes result in the phenotypic associations SHEP5 ({227240}) and SHEP6 ({210750}), respectively. Sequence variation thought to affect expression of KITLG ({184745}) results in the SHEP7 ({611664}) phenotypic association. SHEP8 ({611724}) is associated with variation in the IRF4 gene ({601900}). Polymorphism in the 3-prime untranslated region of the ASIP gene ({600201}) influences the SHEP9 association ({611742}). The SHEP10 association ({612267}) comprises variation in the TPCN2 gene ({612163}), and SHEP11 ({612271}) is associated with polymorphism near the TYRP1 gene ({115501}).
 

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