| Primary Identifier | MGI:98880 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 22173 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables protein homodimerization activity. Acts upstream of or within several processes, including melanin biosynthetic process; pigmentation; and thymus development. Located in melanosome. Is expressed in central nervous system; eye; head mesenchyme; mesenchyme derived from neural crest; and skin. Used to study buphthalmos and oculocutaneous albinism. Human ortholog(s) of this gene implicated in several diseases, including melanoma (multiple); ocular albinism 1; oculocutaneous albinism (multiple); retinoschisis; and vitiligo. Orthologous to human TYR (tyrosinase). PHENOTYPE: Numerous mutations at this locus result in albinism or hypopigmentation. Albinism is associated with reduced number of optic nerve fibers and mutants can have impaired vision. Some alleles are lethal. [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
