| Primary Identifier | MGI:2153040 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 22293 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables glucose:proton symporter activity and sucrose:proton symporter activity. Involved in developmental pigmentation; lysosomal lumen pH elevation; and melanin biosynthetic process from tyrosine. Acts upstream of or within sucrose transport. Predicted to be located in melanosome membrane. Predicted to be active in membrane. Is expressed in brain; embryo ectoderm; eye; mesenchyme derived from neural crest; and skin. Used to study oculocutaneous albinism. Human ortholog(s) of this gene implicated in oculocutaneous albinism type IV and pigmentation disease. Orthologous to human SLC45A2 (solute carrier family 45 member 2). PHENOTYPE: Homozygotes for spontaneous mutations exhibit varied degrees of hypopigmentation of the eyes, skin, and hair, especially the underfur. Eyes are very light at birth but darken with age. [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
