| Primary Identifier | MGI:1924809 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 77559 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including 4-alpha-glucanotransferase activity; amylo-alpha-1,6-glucosidase activity; and glycogen debranching enzyme activity. Involved in glycogen catabolic process. Acts upstream of or within glycogen metabolic process. Located in cytoplasm; inclusion body; and nucleus. Is active in cytosol. Is expressed in several structures, including alimentary system; central nervous system; heart; musculature; and sensory organ. Used to study glycogen storage disease III. Human ortholog(s) of this gene implicated in glycogen storage disease III. Orthologous to human AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase). PHENOTYPE: Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. [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
