| Primary Identifier | MGI:2180307 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 246694 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within blood coagulation and pigmentation. Predicted to be located in cytosol. Predicted to be part of BLOC-2 complex. Predicted to be active in cytoplasm. Used to study Hermansky-Pudlak syndrome 5 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. Orthologous to human HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2). PHENOTYPE: Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis. [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
