Primary Identifier | MGI:1922862 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 75612 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable N-acetylglucosamine-6-sulfatase activity; glycosaminoglycan binding activity; and sulfate binding activity. Predicted to be involved in keratan sulfate catabolic process. Located in lysosome. Is expressed in several structures, including eye; nervous system; skeleton; and spleen primordium. Used to study mucopolysaccharidosis III. Human ortholog(s) of this gene implicated in mucopolysaccharidosis III and mucopolysaccharidosis type IIID. Orthologous to human GNS (glucosamine (N-acetyl)-6-sulfatase). PHENOTYPE: Homozygous KO results in progressive lysosomal glycosaminoglycan accumulation in the central nervous system and peripheral organs and causes hypoactivity and shortened lifespan. [provided by MGI curators] |