Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Tay-Sachs_disease
|
| gptkbp:discoveredBy |
John S. O'Brien et al.
|
| gptkbp:encodes |
beta-hexosaminidase A alpha subunit
|
| gptkbp:Entrez_Gene_ID |
3073
|
| gptkbp:enzymeCommissionNumber |
3.2.1.52
|
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:firstDescribed |
1969
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:4847
|
| gptkbp:involvedIn |
lysosomal degradation of GM2 gangliosides
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15
15q23-q24 |
| gptkbp:mutationAssociatedWith |
gptkb:GM2_gangliosidosis_type_1
|
| gptkbp:OMIM |
606869
|
| gptkbp:orthologInMouse |
gptkb:Hexa
|
| gptkbp:product |
alpha subunit of beta-hexosaminidase A
|
| gptkbp:UniProtID |
P06865
|
| gptkbp:bfsParent |
gptkb:Tay-Sachs_disease
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
HEXA gene
|