| Primary Identifier | MGI:2137586 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 94245 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including anterograde synaptic vesicle transport; regulation of JUN kinase activity; and regulation of secretion by cell. Acts upstream of or within several processes, including negative regulation of protein serine/threonine kinase activity; plasma membrane bounded cell projection organization; and platelet dense granule organization. Located in several cellular components, including dendritic spine; growth cone; and sarcolemma. Part of BLOC-1 complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and synaptic vesicle membrane. Is expressed in central nervous system and retina. Used to study Hermansky-Pudlak syndrome 7; platelet storage pool deficiency; and schizophrenia. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 7 and schizophrenia. Orthologous to human DTNBP1 (dystrobrevin binding protein 1). PHENOTYPE: Mutations at this locus result in pigmentation anomalies of the coat and eye as well as prolonged bleeding times due to platelet abnormalities. [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
