| Primary Identifier | MGI:2178598 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 17828 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in anterograde synaptic vesicle transport. Acts upstream of or within developmental pigmentation; otolith morphogenesis; and vesicle-mediated transport. Part of BLOC-1 complex. Is active in microvesicle. Used to study Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 1; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5). PHENOTYPE: Mutations at this locus cause pigment dilution, prolonged bleeding time, and inner ear abnormalities, modeling Hermansky-Pudlak Syndrome. [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
