Preferred Label : Skin/hair/eye pigmentation, variation in, 2;
Symbol : SHEP2;
CISMeF acronym : HCL2; RHA; RHC; SHEP2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Red hair color; Blond hair/fair skin; Hair color 2; RHC; RHA; HCL2;
Included titles and symbols : Uv-induced skin damage, susceptibility to;
Description : Two types of melanin, the red pheomelanin and the black eumelanin, are present in
human skin. Valverde et al. (1995) noted that eumelanin is photoprotective, whereas
pheomelanin may contribute to UV-induced skin damage because of its potential to generate
free radicals in response to ultraviolet radiation. Individuals with red hair have
a predominance of pheomelanin in hair and skin and/or a reduced ability to produce
eumelanin, which may explain why they fail to tan and are at risk from ultraviolet
radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated
by melanocyte-stimulating hormone (see 176830), which acts via its receptor (MC1R)
on melanocytes to increase the synthesis of eumelanin, and also via the product of
the agouti locus (AGTI; 600201), which antagonizes this action.;
Inheritance : ? Autosomal recessive; red hair pigment possibly dominant to its absence and hypostatic to brown or black;
Prefixed ID : #266300;
Origin ID : 266300;
UMLS CUI : C1849452;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- Semantic type(s)
