| Primary Identifier | MGI:1350341 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 27029 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables N-sulfoglucosamine sulfohydrolase activity and sulfuric ester hydrolase activity. Involved in heparan sulfate proteoglycan catabolic process. Acts upstream of or within determination of adult lifespan and motor behavior. Is active in lysosomal lumen. Used to study mucopolysaccharidosis III and mucopolysaccharidosis type IIIA. Human ortholog(s) of this gene implicated in mucopolysaccharidosis III and mucopolysaccharidosis type IIIA. Orthologous to human SGSH (N-sulfoglucosamine sulfohydrolase). PHENOTYPE: Mice homozygous for a spontaneous allele die prematurely displaying low sulfamidase activity, variable lysosomal storage in various brain cell types and other tissues, heparan sulfate-uria, scruffy coats, corneal opacities, bladder distension, hydronephrosis, hepatosplenomegaly and bone deformities. [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
