| Primary Identifier | MGI:1921903 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 74653 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables carbohydrate kinase activity. Involved in protein O-linked glycosylation. Acts upstream of or within several processes, including learning or memory; neuromuscular process; and sensory perception of pain. Is active in endoplasmic reticulum membrane. Is expressed in cerebral cortex. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A12 and muscular dystrophy-dystroglycanopathy type C12. Orthologous to human POMK (protein O-mannose kinase). PHENOTYPE: Mice homozygous for a gene trap insertion show hydrocephaly and cerebellar dysplasia. Mice also show learning defects, impaired motor strength and decreased sensitivity to pain. [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
