Tchem HEXB Beta-hexosaminidase subunit beta

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. Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Uniprot Accession IDs

• P07686

Gene Name

• HEXB

Ensembl ID

• ENST00000261416
• ENSP00000261416
• ENSG00000049860

Symbol

• ENC-1AS
• HEL-248
• HEL-S-111

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	1
disease perturbation	0.99
biological process	0.97
gene perturbation	0.85
protein domain	0.85

Protein Classes

PANTHER Classes

Protein / Hydrolase / Glycosidase / Beta-hexosaminidase Subunit Beta

DTO Classes

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

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: 118.66   (req: < 5)

Gene RIFs: 45   (req: <= 3)

Antibodies: 234   (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: 118.66   (req: >= 5)

Gene RIFs: 45   (req: > 3)

Antibodies: 234   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 28

Tchem

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

Active Ligands: 3

Tclin

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

Active Drug: 0