| Primary Identifier | MGI:1351614 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 27357 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glycogenin glucosyltransferase activity. Involved in glycogen biosynthetic process. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in several structures, including cardiovascular system; genitourinary system; gut; nervous system; and respiratory system. Used to study glycogen storage disease XV. Human ortholog(s) of this gene implicated in glycogen storage disease and glycogen storage disease XV. Orthologous to human GYG1 (glycogenin 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality due to cardiorespiratory failure, increased glycogen level in skeletal and cardiac muscle, decreased energy expenditure, abnormalities in cellular respiration and muscle electrophysiology, and impaired exercise endurance. [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
