| 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 9.1.0) 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. Is expressed in several structures, including brain; liver; lung; muscle tissue; and white fat. 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
