loading...| Preferred Name | Hexosaminidase A | |
| Synonyms |
Hex A beta-N-Acetylhexosaminidase A beta N Acetylhexosaminidase A |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D054818 |
|
| altLabel |
Hex A beta-N-Acetylhexosaminidase A beta N Acetylhexosaminidase A |
|
| AN |
for deficiency consider: SANDHOFF DISEASE or TAY-SACHS DISEASE |
|
| AQL |
AD AE AI AN BI BL CF CH CL CS DE EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR |
|
| cui |
C0162330 |
|
| DC |
1 |
|
| 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. |
|
| DX |
20080101 |
|
| FX |
D012497 D013661 |
|
| HN |
2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000096 http://purl.bioontology.org/ontology/MESH/Q000627 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000493 http://purl.bioontology.org/ontology/MESH/Q000494 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000138 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000008 http://purl.bioontology.org/ontology/MESH/Q000009 http://purl.bioontology.org/ontology/MESH/Q000032 http://purl.bioontology.org/ontology/MESH/Q000037 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000302 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000592 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000502 http://purl.bioontology.org/ontology/MESH/Q000506 http://purl.bioontology.org/ontology/MESH/Q000187 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000633 http://purl.bioontology.org/ontology/MESH/Q000600 |
|
| Inverse of RB |
EC 3.2.1.52 |
|
| Inverse of RO | ||
| Machine permutation |
2008; for HEXOSAMINIDASE A see BETA-N-ACETYLHEXOSAMINIDASE 1987-2007 |
|
| MDA |
20070709 |
|
| MMR |
20090721 |
|
| MN |
D08.811.277.450.483.180.750 |
|
| notation |
D054818 |
|
| prefLabel |
Hexosaminidase A |
|
| TERMUI |
T004677 T004678 T004676 |
|
| TH |
UNK (19XX) |
|
| tui |
T116 T126 |
|
| subClassOf |