| Primary Identifier | MGI:1196297 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 52120 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables heparan-alpha-glucosaminide N-acetyltransferase activity. Involved in heparan sulfate proteoglycan catabolic process. Is active in lysosomal lumen. Is expressed in central nervous system; eye; and long bone epiphyseal plate. Used to study mucopolysaccharidosis III and mucopolysaccharidosis type IIIC. Human ortholog(s) of this gene implicated in mucopolysaccharidosis type IIIC and retinitis pigmentosa 73. Orthologous to human HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit progressive storage pathology in the CNS and peripheral organs, glycosaminoglycan accumulation in brain and most somatic organs, lysosomal distension and dysfunction, astrocytosis, microgliosis, hepatosplenomegaly, behavioral deficits and premature death. [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
