| Primary Identifier | MGI:99456 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 17199 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables melanocyte-stimulating hormone receptor activity. Involved in intracellular signal transduction; positive regulation of intracellular signal transduction; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within melanin biosynthetic process; pigmentation; and sensory perception of pain. Predicted to be located in membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in several structures, including central nervous system; foregut; musculature; sensory organ; and skin. Human ortholog(s) of this gene implicated in familial melanoma; major depressive disorder; melanoma; oculocutaneous albinism type II; and pigmentation disease. Orthologous to human MC1R (melanocortin 1 receptor). PHENOTYPE: Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
