| Primary Identifier | MGI:1921258 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 74008 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-sulfoglucosamine-3-sulfatase activity and arylsulfatase activity. Acts upstream of or within several processes, including lysosome organization; neuron apoptotic process; and retina development in camera-type eye. Located in lysosome. Is expressed in central nervous system and retina. Used to study mucopolysaccharidosis. Human ortholog(s) of this gene implicated in Usher syndrome. Orthologous to human ARSG (arylsulfatase G). PHENOTYPE: Mice homozygous for a null mutation display lysosomal storage pathology in the nervous system and peripheral tissues, including the liver and kidneys, resulting in Purkinje cell loss and age dependent cognitive impairment. Mice show a progressive degeneration of photoreceptor cells with age. [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
