| Primary Identifier | MGI:95762 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14667 |
| 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 enzyme activator activity. Acts upstream of or within several processes, including ganglioside catabolic process; lipid storage; and neuromuscular process controlling balance. Located in mitochondrion. Is expressed in several structures, including back skin; central nervous system; genitourinary system; hemolymphoid system; and retina. Used to study GM2 gangliosidosis, AB variant. Human ortholog(s) of this gene implicated in GM2 gangliosidosis and GM2 gangliosidosis, AB variant. Orthologous to human GM2A (ganglioside GM2 activator). PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning. [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
