| Primary Identifier | MGI:107193 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 18241 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable L-DOPA receptor activity; carboxylic acid binding activity; and dopamine binding activity. Involved in regulation of melanosome organization and regulation of melanosome transport. Predicted to be located in several cellular components, including apical plasma membrane; lysosomal membrane; and melanosome. Predicted to be active in melanosome membrane and plasma membrane. Is expressed in several structures, including eye; hair follicle; and inner ear. Used to study ocular albinism 1. Human ortholog(s) of this gene implicated in congenital nystagmus 6 and ocular albinism 1. Orthologous to human GPR143 (G protein-coupled receptor 143). PHENOTYPE: Hemizygous males exhibit hypopigmentation of the ocular fundus, misrouting of the optic fibers at the chiasm, and the presence of giant melanosomes in the pigment epithelium of the eye. [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
