| Primary Identifier | MGI:2181763 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 20170 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable GTP-dependent protein binding activity and small GTPase binding activity. Involved in lysosome localization. Acts upstream of or within several processes, including blood coagulation; lipid homeostasis; and protein secretion. Predicted to be located in several cellular components, including endoplasmic reticulum; endosome; and lysosome. Predicted to be part of BLOC-2 complex. Predicted to be active in lysosomal membrane. Used to study Hermansky-Pudlak syndrome 6. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 6. Orthologous to human HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3). PHENOTYPE: Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect. [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
