Hexa Gene Summary [Mouse]
This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mice lacking the encoded protein exhibit accumulation of gangliosides in the brain and membranous cytoplasmic bodies in neurons. Certain mutations in the human ortholog of this gene cause Tay-Sachs disease. [provided by RefSeq, Aug 2016]
Details
| Type | Protein Coding |
| Official Symbol | Hexa |
| Official Name | hexosaminidase A [Source:MGI Symbol;Acc:MGI:96073] |
| Ensembl ID | ENSMUSG00000025232 |
| Bio databases IDs | |
| Aliases | hexosaminidase A |
| Synonyms | beta-N-ACETYLHEXOSAMINIDASE, Hex-1, HEXOSAMINIDASE A, hexosaminidase subunit alpha, hexosaminidase subunit α, TSD, β-N-ACETYLHEXOSAMINIDASE, β-n-acetylhexosaminidase α-chain |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Hexa often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl hydrolase family 20, domain 2
- Glycosyl hydrolase family 20, catalytic domain
- acetylglucosaminyltransferase
- GH20_hexosaminidase
- beta-L-N-acetylhexosaminidase
- enzyme
- protein binding
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- seizures
- weight loss
- infertility condition
- adult GM2 gangliosidosis
- hexosaminidase A deficiency
- Tay-Sachs disease
- chronic GM2 gangliosidosis
- rheumatoid arthritis
- Tay-Sachs disease variant B1
- growth failure
regulates
- lipid
- hyaluronic acid
- chondroitin sulfate E
- ganglioside
- lyso-ganglioside GM2
- gangliotriaosylceramide II3-sulfate
- lactosylceramide II3-sulfate
- GalNAc-ganglioside GD1a
- chondroitin
- glycosaminoglycan
role in cell
- size
- accumulation in
- quantity
- myelination
- organization
- abnormal morphology
- morphogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- intracellular membrane-bounded organelle
- Extracellular Space
- cellular membrane
- lysosome
- cytosol
- lysosomal compartment
- azurophil granules
- phagosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Hexa gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- lipid storage
- glycosaminoglycan biosynthetic process
- myelination
- cell morphogenesis involved in neuron differentiation
- ganglioside catabolic process
- sensory perception of sound
- carbohydrate metabolic process
- adult walking behavior
- neuromuscular process controlling posture
- maintenance of location in cell
- skeletal system development
- dermatan sulfate catabolic process
- sexual reproduction
- neuromuscular process controlling balance
- hyaluronan catabolic process
- glycosaminoglycan metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- azurophil granule
- membrane
- cytosol
- lysosomal lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- acetylglucosaminyltransferase activity
- protein heterodimerization activity
- beta-N-acetylhexosaminidase activity