| Primary Identifier | MGI:96073 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 15211 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-N-acetylhexosaminidase activity. Involved in dermatan sulfate catabolic process and hyaluronan catabolic process. Acts upstream of or within several processes, including adult walking behavior; ganglioside catabolic process; and nervous system development. Located in membrane. Is active in lysosome. Is expressed in brain; mandible; and maxilla. Used to study Tay-Sachs disease. Human ortholog(s) of this gene implicated in Tay-Sachs disease. Orthologous to human HEXA (hexosaminidase subunit alpha). PHENOTYPE: Homozygous mutants accumulate excess amounts of GM2 ganglioside that is stored in neurons as membranous cytoplasmic bodies typically seen in the neurons of Tay-Sachs disease patients. However, the mutant mice appear to be functionally normal. [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
