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 7.1.0) Enables alpha-galactosidase activity. Involved in negative regulation of nitric oxide biosynthetic process. 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] |