Primary Identifier | MGI:1355303 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 50917 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-acetylgalactosamine-6-sulfatase activity. Predicted to be involved in chondroitin sulfate catabolic process. Is active in lysosome. Is expressed in embryo; lens epithelium; neural retina; and retina. Used to study mucopolysaccharidosis IV. Human ortholog(s) of this gene implicated in mucopolysaccharidosis IVA. Orthologous to human GALNS (galactosamine (N-acetyl)-6-sulfatase). PHENOTYPE: Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. [provided by MGI curators] |