HEXA
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606869 Ensembl IDEnsembl:ENSG00000213614 HGNC IDHGNC:HGNC:4878 PHARMGKB IDPA29256 Map Location15q23 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in HEXA
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:0046982 | protein heterodimerization activity |
| MF | IEA | GO:0102148 | N-acetyl-beta-D-galactosaminidase activity |
| BP | IEA | GO:0005975 | carbohydrate metabolic process |
Gene expression in normal tissue: HEXA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HEXA
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-1793185 | Chondroitin sulfate/dermatan sulfate metabolism |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HEXA
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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