Primary Identifier | MGI:2385254 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 232493 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity. Involved in glycogen biosynthetic process. Is active in cytosol. Is expressed in cerebral cortex; heart; and liver. Human ortholog(s) of this gene implicated in glycogen storage disease. Orthologous to human GYS2 (glycogen synthase 2). PHENOTYPE: Mice homozygous for a conditional allele knocked out in the liver results in abnormal glycogen homeostasis, altered glucose homeostasis, decreased exercise endurance, and a phenotype similar to patients with glycogen storage disease 0. [provided by MGI curators] |