| Primary Identifier | MGI:1333879 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 11774 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTP-dependent protein binding activity and protein phosphatase binding activity. Involved in anterograde synaptic vesicle transport. Acts upstream of with a positive effect on positive regulation of transcription by RNA polymerase II. Acts upstream of or within with a negative effect on mRNA transcription by RNA polymerase II and regulation of catalytic activity. Acts upstream of or within several processes, including establishment of protein localization to organelle; hemopoiesis; and vesicle organization. Is active in microvesicle. Used to study Hermansky-Pudlak syndrome 2 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 2; interstitial lung disease; neutropenia; and pulmonary fibrosis. Orthologous to human AP3B1 (adaptor related protein complex 3 subunit beta 1). PHENOTYPE: Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span. [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
