| Primary Identifier | MGI:1861441 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 11891 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables GTP binding activity; GTPase activity; and myosin V binding activity. Acts upstream of or within several processes, including melanocyte differentiation; melanosome transport; and secretion by cell. Located in Golgi apparatus; cytoplasmic vesicle; and photoreceptor outer segment. Is expressed in 4-cell stage embryo; endocrine gland; lip; paravertebral ganglion; and thymus primordium. Used to study Hermansky-Pudlak syndrome 1; hemophagocytic lymphohistiocytosis; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Griscelli syndrome type 2 and non-Langerhans-cell histiocytosis. Orthologous to human RAB27A (RAB27A, member RAS oncogene family). PHENOTYPE: Homozygotes have abnormal melanocyte development producing abnormal pigmentation and a gray coat color. [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
