Primary Identifier | MGI:1921435 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 74185 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis). Involved in glycogen biosynthetic process. Is active in cytosol. Is expressed in eye; liver; nervous system; and skeletal muscle. Used to study glycogen storage disease IV. Human ortholog(s) of this gene implicated in glycogen storage disease IV and pulmonary tuberculosis. Orthologous to human GBE1 (1,4-alpha-glucan branching enzyme 1). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit mid-to-late gestation lethality, decreased heart rate, glycogen storage defects, and ventricles that were small, hypertrabeculated, and noncompacted. [provided by MGI curators] |