| Primary Identifier | MGI:2678952 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 232946 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein transmembrane transporter activity. Involved in anterograde synaptic vesicle transport. Acts upstream of or within several processes, including positive regulation of natural killer cell activation; secretion of lysosomal enzymes; and vesicle organization. Located in cytosol. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome 8. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 8. Orthologous to human BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3). PHENOTYPE: Homozygotes have a hypopigmented coat color and show phenotypic similarity to human 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
