| Primary Identifier | MGI:95609 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14387 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables alpha-1,4-glucosidase activity. Involved in glycophagy. Acts upstream of or within several processes, including circulatory system development; diaphragm contraction; and muscle cell cellular homeostasis. Located in lysosome and membrane. Is active in autolysosome lumen. Is expressed in several structures, including central nervous system; genitourinary system; heart; sensory organ; and skeleton. Used to study glycogen storage disease II. Human ortholog(s) of this gene implicated in glycogen storage disease II. Orthologous to human GAA (alpha glucosidase). PHENOTYPE: Homozygous inactivation of this gene leads to massive glycogen accumulation in multiple organs, cardiomyopathy, hypoactivity, severe motor disability, profound muscle weakness and wasting, and progressive kyphosis. The age of onset and clinical course ofthe disease appear to be strain-dependent. [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
