| Primary Identifier | MGI:95872 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 110006 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-glucuronidase activity. Involved in chondroitin sulfate catabolic process; heparan sulfate proteoglycan catabolic process; and hyaluronan catabolic process. Acts upstream of or within carbohydrate metabolic process. Located in extracellular space. Is active in lysosomal lumen. Is expressed in several structures, including alimentary system; brain; heart; sensory organ; and viscerocranium. Used to study Sly syndrome. Human ortholog(s) of this gene implicated in Sly syndrome. Orthologous to human GUSB (glucuronidase beta). PHENOTYPE: Knock-in mutations of this gene lead to lysosomal storage disease and may cause premature death, facial, tail and limb anomalies, growth retardation, male sterility, reduced lactation, osteosclerosis and behavioral defects. Additional phenotypes include partial neonatal death and deafness. [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
