| Primary Identifier | MGI:96074 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 15212 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-N-acetylhexosaminidase activity and identical protein binding activity. Involved in several processes, including astrocyte cell migration; glycosaminoglycan catabolic process; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including ganglioside catabolic process; penetration of zona pellucida; and sensory perception of sound. Located in extracellular space; membrane; and secretory granule. Is active in lysosome. Is expressed in several structures, including endocrine gland; eye; genitourinary system; hemolymphoid system; and nervous system. Used to study Sandhoff disease. Human ortholog(s) of this gene implicated in Sandhoff disease and spinal muscular atrophy. Orthologous to human HEXB (hexosaminidase subunit beta). PHENOTYPE: Homozygous mutants exhibit spasticity, muscle weakness, rigidity, tremors, and ataxia beginning around 4 months of age and resulting in death about 6 weeks later. Mutants accumulate GM2 ganglioside and glycolipid GA2 in brain. [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
