| 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 8.0.0) Predicted to enable chloride channel activity. Acts upstream of or within several processes, including melanin biosynthetic process; melanocyte differentiation; and spermatid development. Predicted to be located in endoplasmic reticulum membrane; endosome membrane; and lysosomal membrane. Predicted to be active in melanosome membrane. 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
