HEXB
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606873 Ensembl IDEnsembl:ENSG00000049860 HGNC IDHGNC:HGNC:4879 PHARMGKB IDPA29257 Map Location5q13.3 | |||||
GO terms in HEXB
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0004563 | beta-N-acetylhexosaminidase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008375 | acetylglucosaminyltransferase activity |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0046982 | protein heterodimerization activity |
| MF | IEA | GO:0102148 | N-acetyl-beta-D-galactosaminidase activity |
Gene expression in normal tissue: HEXB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HEXB
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1630316 | Glycosaminoglycan metabolism |
| reactome | R-HSA-1638074 | Keratan sulfate/keratin metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1660662 | Glycosphingolipid metabolism |
| reactome | R-HSA-168249 | Innate Immune System |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HEXB
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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