| 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 8.0.0) Enables molecular adaptor activity. Involved in anterograde synaptic vesicle transport and neuron projection development. Acts upstream of or within several processes, including establishment of protein localization; glutamine family amino acid metabolic process; and limbic system development. Located in endosome. Part of BLOC-1 complex and filamentous actin. Is active in several cellular components, including focal adhesion; microvesicle; and stress fiber. Is expressed in brain; spinal cord; and thoracic ganglion. 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
