| Primary Identifier | MGI:2153839 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 12807 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within pigmentation. Located in cytoplasm. Used to study Hermansky-Pudlak syndrome 3 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1). PHENOTYPE: Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet 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
