| Primary Identifier | MGI:1927580 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 18457 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables AP-3 adaptor complex binding activity; actin filament binding activity; and molecular adaptor activity. Involved in several processes, including aromatic amino acid metabolic process; axo-dendritic transport; and vesicle organization. Acts upstream of or within several processes, including bradykinin biosynthetic process; limbic system development; and nucleobase-containing small molecule metabolic process. Part of BLOC-1 complex and filamentous actin. Is active in several cellular components, including cytoplasmic vesicle; cytoskeleton; and focal adhesion. Is expressed in nervous system. Used to study Hermansky-Pudlak syndrome 9; platelet storage pool deficiency; and pulmonary emphysema. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 9. Orthologous to human BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6). PHENOTYPE: Mutations at this locus result in a coat color abnormality, abnormal platelet morphology, age related lung abnormalities, decreased ssurvival, and impaired motor coordination. [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
