| Primary Identifier | MGI:97454 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 18431 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable chloride channel activity. Involved in endosome to melanosome transport. Acts upstream of or within several processes, including melanin biosynthetic process; melanocyte differentiation; and spermatid development. Is active in cell surface and melanosome. Is expressed in brain and eye. Used to study oculocutaneous albinism. Human ortholog(s) of this gene implicated in actinic keratosis; oculocutaneous albinism type II; pigmentation disease; skin cancer (multiple); and squamous cell carcinoma. Orthologous to human OCA2 (OCA2 melanosomal transmembrane protein). PHENOTYPE: Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality. [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
