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. [provided by RefSeq, Jan 2016]

Uniprot Accession IDs

• P06865
• B4DKE7
• E7ENH7
• Q53HS8
• Q6AI32

Gene Name

• HEXA

Ensembl ID

• ENST00000268097
• ENSP00000268097
• ENSG00000213614

Symbol

• TSD

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

Protein Classes

PANTHER Classes

Protein / Hydrolase / Glycosidase / Beta-hexosaminidase Subunit Alpha

DTO Classes

Protein / Enzyme / Hydrolase / Glycosidase / Beta-hexosaminidase Subunit Alpha

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: 42   (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: 42   (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