Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:enzyme
|
| gptkbp:associatedWith |
gptkb:Tay-Sachs_disease
|
| gptkbp:cofactor |
requires activator protein (GM2A)
|
| gptkbp:discoveredBy |
1970s
|
| gptkbp:EC_number |
3.2.1.52
|
| gptkbp:enzyme |
Hex B
Hex S |
| gptkbp:fullName |
Beta-hexosaminidase subunit alpha
|
| gptkbp:function |
catalyzes the degradation of GM2 gangliosides
|
| gptkbp:gene |
gptkb:HEXA
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hex A
|
| gptkbp:locatedOnChromosome |
15q23-q24
|
| gptkbp:location |
gptkb:lysosome
|
| gptkbp:mutationAssociatedWith |
deficiency leads to GM2 gangliosidosis
|
| gptkbp:OMIM |
606869
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:structure |
heterodimer of alpha and beta subunits
|
| gptkbp:substrate |
gptkb:GM2_ganglioside
|
| gptkbp:subunit |
beta-hexosaminidase A complex
|
| gptkbp:UniProtID |
P06865
|
| gptkbp:bfsParent |
gptkb:beta-N-acetylhexosaminidase_A
|
| gptkbp:bfsLayer |
7
|