| Primary Identifier | MGI:2444304 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 271564 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including brain-derived neurotrophic factor receptor signaling pathway; long-term synaptic depression; and myeloid cell differentiation. Located in Golgi apparatus; neuronal dense core vesicle lumen; and sperm midpiece. Is active in several cellular components, including endoplasmic reticulum; mitochondrion; and neuronal cell body. Is expressed in central nervous system; retina; and thymus primordium. Used to study choreaacanthocytosis. Human ortholog(s) of this gene implicated in choreaacanthocytosis and choreatic disease. Orthologous to human VPS13A (vacuolar protein sorting 13 homolog A). PHENOTYPE: Homozygous null mice show motor dysfunction, altered social interaction, hematologic defects including acanthocytosis, striatum atrophy with significant apoptosis and gliosis, lower midbrain homovanillic acid levels, and male sterility with asthenozoospermia and sperm mitochondrial sheath anomalies. [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
