| Primary Identifier | MGI:1920939 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 73689 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable gamma-tubulin binding activity. Involved in anterograde synaptic vesicle transport. Located in cytosol. Part of BLOC-1 complex. Is expressed in several structures, including aorta-gonad-mesonephros; brain; genitourinary system; gut; and spleen. Orthologous to human BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2). PHENOTYPE: Mice homozygous for a null allele exhibit elevated Notch signaling during neural and hematopoietic stem and progenitor cell development leading to prenatal and neonatal lethality associated with defects in cortical development and hematopoiesis, craniofacial anomalies, and absent eye pigmentation. [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
