Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
beta-hexosaminidase subunit alpha
hexosaminidase A alpha polypeptide |
| gptkbp:associatedWith |
gptkb:Tay-Sachs_disease
|
| gptkbp:discoveredIn |
1971
|
| gptkbp:encodes |
beta-hexosaminidase A alpha subunit
|
| gptkbp:Entrez_Gene_ID |
3073
|
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
catalyzes hydrolysis of GM2 gangliosides
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
4868
|
| https://www.w3.org/2000/01/rdf-schema#label |
HEXA
|
| gptkbp:locatedOnChromosome |
15q23-q24
|
| gptkbp:mutationAssociatedWith |
gptkb:Sandhoff_disease
|
| gptkbp:numberOfExons |
14
|
| gptkbp:OMIM |
606869
|
| gptkbp:orthologInMouse |
gptkb:Hexa
|
| gptkbp:pathway |
gptkb:lysosome
glycosphingolipid metabolism |
| gptkbp:UniProtID |
P06865
|
| gptkbp:bfsParent |
gptkb:chromosome_15_(HEXA_gene)
|
| gptkbp:bfsLayer |
7
|