DISEASES

Disease-gene associations mined from literature

Literature associating ASIP and mongolian spot

ASIP [ENSP00000454804]

Agouti-signaling protein; Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes.

Synonyms:  ASIP,  P42127,  P42127p,  hP42127,  1Y7J ...

Linkouts:  STRING  Pharos  UniProt