| Primary Identifier | MGI:1916380 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 666173 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol-3-phosphate binding activity. Involved in acrosome assembly; central nervous system development; and maintenance of lens transparency. Acts upstream of or within several processes, including dentate gyrus development; head morphogenesis; and social behavior. Located in acrosomal membrane. Used to study Cohen syndrome and cataract. Human ortholog(s) of this gene implicated in Cohen syndrome. Orthologous to human VPS13B (vacuolar protein sorting 13 homolog B). PHENOTYPE: Homozygous knockout affects the Golgi apparatus in spermatids which leads to male infertility. Homozygous KO also leads to early-onset cataracts and to hypoactivity and impaired motor coordination and spatial learning. [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
