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loading...| Preferred Name | Hexosaminidase A [Chemical/Ingredient] | |
| Synonyms |
Hex A beta-N-Acetylhexosaminidase A Hexosaminidase A |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000178620 |
|
| altLabel |
Hex A beta-N-Acetylhexosaminidase A Hexosaminidase A |
|
| cui |
C0162330 |
|
| MESH DEFINITION |
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE. |
|
| MESH DUI |
D054818 |
|
| MeSH name |
Hexosaminidase A |
|
| MESH UI |
M0002425 |
|
| NDFRT kind |
INGREDIENT_KIND |
|
| notation |
N0000178620 |
|
| NUI |
N0000178620 |
|
| prefLabel |
Hexosaminidase A [Chemical/Ingredient] |
|
| tui |
T116 T126 |
|
| subClassOf |
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