Primary Identifier | MGI:101805 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 14936 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables glycogen (starch) synthase activity and glycogen synthase activity, transferring glucose-1-phosphate. Involved in glycogen biosynthetic process. Acts upstream of or within heart development. Located in cytoplasm and inclusion body. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in cardiovascular system disease. Orthologous to human GYS1 (glycogen synthase 1). PHENOTYPE: Homozygous null mice display neonatal lethality due to impaired cardiac function and exhibit reduced reduced ventricular chamber size, dilated atria, vascular congestion, and liver hemorrhage. Mice homozygous for a knock-in allele show altered glycogen homeostasis. [provided by MGI curators] |