| Primary Identifier | MGI:97578 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 102093 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable calmodulin binding activity. Predicted to be involved in carbohydrate metabolic process. Predicted to act upstream of or within glycogen metabolic process. Predicted to be located in plasma membrane. Predicted to be part of phosphorylase kinase complex. Is expressed in colon; hindgut; and primitive hindgut. Used to study glycogen storage disease IXb. Human ortholog(s) of this gene implicated in glycogen storage disease IXb. Orthologous to human PHKB (phosphorylase kinase regulatory subunit beta). PHENOTYPE: Homozygous null mice exhibit hepatomegaly, lower fasting blood glucose levels, decreased glycogen phosphorylase activity and increased sensitivity to pyruvate indicating partial glycogenolytic activity, and increased gluconeogenesis and lipid metabolism. [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
