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 |
|---|---|---|---|---|---|
| hexosaminidase subunit alpha | MIM:606869 | Ensembl:ENSG00000213614 | HGNC:HGNC:4878 | PA29256 | 15q23 |
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 |
| BP | IDA | GO:0006024 | glycosaminoglycan biosynthetic process |
| BP | TAS | GO:0006687 | glycosphingolipid metabolic process |
| BP | TAS | GO:0030207 | chondroitin sulfate catabolic process |
| BP | TAS | GO:0030214 | hyaluronan catabolic process |
| BP | TAS | GO:0042340 | keratan sulfate catabolic process |
| CC | HDA | GO:0016020 | membrane |
| CC | IDA | GO:0042582 | azurophil granule |
| CC | TAS | GO:0043202 | lysosomal lumen |
| CC | HDA | GO:0070062 | extracellular exosome |
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 |
| reactome | R-HSA-2022857 | Keratan sulfate degradation |
| reactome | R-HSA-2024101 | CS/DS degradation |
| reactome | R-HSA-2142845 | Hyaluronan metabolism |
| reactome | R-HSA-2160916 | Hyaluronan uptake and degradation |
| reactome | R-HSA-3560782 | Diseases associated with glycosaminoglycan metabolism |
| reactome | R-HSA-3656234 | Defective HEXA causes GM2G1 |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-428157 | Sphingolipid metabolism |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| wikipathways | WP4153 | Degradation pathway of sphingolipids, including diseases |
| smpdb | SMP00045 | Amino Sugar Metabolism |
| smpdb | SMP00216 | Sialuria or French Type Sialuria |
| smpdb | SMP00217 | Sialuria or French Type Sialuria |
| smpdb | SMP00240 | Salla Disease/Infantile Sialic Acid Storage Disease |
| smpdb | SMP00390 | Tay-Sachs Disease |
| smpdb | SMP00534 | G(M2)-Gangliosidosis: Variant B, Tay-sachs disease |
| kegg | hsa00511 | Other glycan degradation - Homo sapiens (human) |
| kegg | hsa00520 | Amino sugar and nucleotide sugar metabolism - Homo sapiens (human) |
| kegg | hsa00531 | Glycosaminoglycan degradation - Homo sapiens (human) |
| kegg | hsa00603 | Glycosphingolipid biosynthesis - globo and isoglobo series - Homo sapiens (human) |
| kegg | hsa00604 | Glycosphingolipid biosynthesis - ganglio series - Homo sapiens (human) |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
| humancyc | PWY-6573 | chondroitin sulfate degradation (metazoa) |
| humancyc | PWY-6576 | dermatan sulfate degradation (metazoa) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HEXA
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