| Primary Identifier | MGI:98881 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 22178 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein homodimerization activity. Involved in positive regulation of melanin biosynthetic process. Acts upstream of or within several processes, including acetoacetic acid metabolic process; melanocyte differentiation; and melanosome organization. Located in melanosome membrane. Is expressed in several structures, including hip; nervous system; sensory organ; skeleton; and skin. Human ortholog(s) of this gene implicated in oculocutaneous albinism; oculocutaneous albinism type III; and pigmentation disease. Orthologous to human TYRP1 (tyrosinase related protein 1). PHENOTYPE: The major influence of mutations at this locus is to change eumelanin from a black to a brown pigment in the coat and eyes in varying degrees. Semidominant mutants result in melanocyte degeneration causing reduced pigmentation and progressive hearing loss. [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
