Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about HEXA: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
| Gene Symbol | HEXA |
| Aliases | Page for HEXA Gene |
| Chromosome | 15q24.1 |
| Function | The HEXA gene encodes the alpha subunit of the enzyme β-hexosaminidase A (Hex A), a lysosomal hydrolase essential for the catabolism of GM2 ganglioside and other glycoconjugates containing N-acetylhex |
| Primary Expression | most tissues with highest levels in: |
| UniProt ID | P06865 |
| NCBI Gene ID | 3073 |
| Ensembl ID | ENSG00000213626 |
| OMIM | 272800 |
| GeneCards | HEXA |
| Human Protein Atlas | HEXA |
| HEXB | Encodes the β-subunit partner of HEXA; mutations cause Sandhoff disease |
| GM2-ganglioside | Primary substrate accumulated in HEXA deficiency |
| Lysosomal storage disorders | Broader category of inherited metabolic diseases |
| Neuronal ceroid lipofuscinoses | Related lysosomal disorders with neurodegeneration |
| Associated Diseases | disease |
| Interactions | Rb, DEMENTIA, PARKINSON, PARKINSON'S DISEASE, Α-Synuclein, GBA |
| KG Connections | 34 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
HEXA["<b>HEXA</b>"]
Amyotrophic_Lateral_Sclerosis{"Amyotrophic Lateral Sclerosis"}
HEXA -->|"contributes_to"| Amyotrophic_Lateral_Sclerosis
Huntington{"Huntington"}
HEXA -->|"contributes_to"| Huntington
Dementia{"Dementia"}
HEXA -->|"contributes_to"| Dementia
Ataxia{"Ataxia"}
HEXA -->|"contributes_to"| Ataxia
AND(["AND"])
HEXA -->|"associated_with"| AND
C9ORF72(["C9ORF72"])
HEXA -->|"contributes_to"| C9ORF72
DEMENTIA(["DEMENTIA"])
DEMENTIA -.->|"inhibits"| HEXA
GBA(["GBA"])
GBA -.->|"inhibits"| HEXA
GENES(["GENES"])
GENES -->|"co_discussed"| HEXA
NEURON(["NEURON"])
NEURON -.->|"inhibits"| HEXA
style HEXA fill:#1a3a4a,stroke:#ce93d8,stroke-width:3px,color:#ce93d8| Target | Relation | Type | Str |
|---|---|---|---|
| Amyotrophic Lateral Sclerosis | contributes_to | disease | 0.65 |
| Huntington | contributes_to | disease | 0.65 |
| Dementia | contributes_to | disease | 0.65 |
| Ataxia | contributes_to | disease | 0.65 |
| Als | inhibits | disease | 0.65 |
| Dementia | inhibits | disease | 0.65 |
| Parkinson | inhibits | disease | 0.65 |
| ALS | inhibits | disease | 0.65 |
| C9ORF72 | contributes_to | gene | 0.60 |
| HEXB | associated_with | gene | 0.60 |
| GBA | associated_with | gene | 0.60 |
| Rb | inhibits | protein | 0.60 |
| AND | associated_with | gene | 0.60 |
| AMYOTROPHIC LATERAL SCLEROSIS | contributes_to | gene | 0.60 |
| HUNTINGTON | contributes_to | gene | 0.60 |
| DEMENTIA | contributes_to | gene | 0.60 |
| DEMENTIA | inhibits | gene | 0.60 |
| PARKINSON | inhibits | gene | 0.60 |
| Neuron | associated_with | cell_type | 0.60 |
| NEURON | associated_with | gene | 0.60 |
| PARKINSON'S DISEASE | inhibits | gene | 0.60 |
| Sphingolipid | inhibits | pathway | 0.60 |
| Α-Synuclein | inhibits | protein | 0.60 |
| Neuron | expressed_in | cell_type | 0.55 |
| HEXB | co_discussed | gene | 0.50 |
| disease | associated_with | disease | 0.50 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||