| Primary Identifier | MGI:96418 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 15932 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-iduronidase activity. Involved in heparan sulfate proteoglycan catabolic process. Acts upstream of or within several processes, including glycosaminoglycan catabolic process; learning or memory; and skeletal system development. Located in extracellular space. Is active in lysosomal lumen. Used to study mucopolysaccharidosis I and otitis media. Human ortholog(s) of this gene implicated in Scheie syndrome; mucopolysaccharidosis I; mucopolysaccharidosis Ih; and mucopolysaccharidosis Ih/s. Orthologous to human IDUA (alpha-L-iduronidase). PHENOTYPE: Targeted mutants show lysosomal storage in multiple tissues, increased urinary GAG, craniofacial and skeletal defects, increased body weight, impaired habituation and long-term memory for aversive training, reduced ventricular function with valve insufficiency, and progressive hearing loss. [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
