| Primary Identifier | MGI:1347344 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 11605 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables alpha-galactosidase activity. Involved in negative regulation of nitric oxide biosynthetic process and negative regulation of nitric-oxide synthase activity. Acts upstream of or within aorta development and glycosylceramide catabolic process. Located in extracellular space and lysosome. Is expressed in several structures, including adrenal gland; alimentary system; brain; genitourinary system; and liver and biliary system. Used to study Fabry disease. Human ortholog(s) of this gene implicated in Fabry disease. Orthologous to human GLA (galactosidase alpha). PHENOTYPE: Hemizygous male mutant mice exhibit lamellar inclusions within lysosomes in the kidneys and an accumulation of ceramidetrihexoside in the liver and kidneys, making these mutants a model of Fabry disease. [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
