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Tchem
HEXA
Beta-hexosaminidase subunit alpha

Protein Summary
Description
Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. 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. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [pro ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000268097
  • ENSP00000268097
  • ENSG00000213614

Symbol
  • TSD
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.97
kinase perturbation
0.88
transcription factor perturbation
0.88
protein domain
0.85
transcription factor binding site profile
0.85


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 132.97   (req: < 5)
Gene RIFs: 34   (req: <= 3)
Antibodies: 456   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 132.97   (req: >= 5)
Gene RIFs: 34   (req: > 3)
Antibodies: 456   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 2
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0