Primary Identifier | MGI:96417 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 15931 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables iduronate-2-sulfatase activity. Involved in dermatan sulfate catabolic process and heparan sulfate proteoglycan catabolic process. Located in lysosome. Is active in lysosomal lumen. Is expressed in nervous system and neural retina. Used to study mucopolysaccharidosis II. Human ortholog(s) of this gene implicated in mucopolysaccharidosis II. Orthologous to human IDS (iduronate 2-sulfatase). PHENOTYPE: Mice with homozygous disruption of this gene display lysosomal accumulation of glycosaminoglycans in multiple tissues, premature death, impaired locomotor activity, joint swelling, and skeletal defects. [provided by MGI curators] |