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 8.0.0) Predicted to enable calmodulin binding activity. Involved in glucose homeostasis and positive regulation of glycogen catabolic process. Predicted to be located in plasma membrane. Predicted to be part of phosphorylase kinase complex. Is expressed in cerebral cortex; gut; heart; and liver. 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] |