Preferred Name | beta-N-Acetylhexosaminidases | |
Synonyms |
beta-N-Acetylhexosaminidase beta Hexosaminidase N Acetyl beta D hexosaminidase beta N Acetylhexosaminidases beta-Hexosaminidase beta N Acetyl D hexosaminidase beta-N-Acetyl-D-hexosaminide N-acetylhexosaminohydrolase beta N Acetyl hexosaminidase beta-N-Acetyl-hexosaminidase N-Acetyl-beta-D-hexosaminidase beta-N-Acetyl-D-hexosaminidase beta N Acetylhexosaminidase |
|
Definitions |
A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease. |
|
ID |
http://purl.bioontology.org/ontology/MESH/D001619 |
|
altLabel |
beta-N-Acetylhexosaminidase beta Hexosaminidase N Acetyl beta D hexosaminidase beta N Acetylhexosaminidases beta-Hexosaminidase beta N Acetyl D hexosaminidase beta-N-Acetyl-D-hexosaminide N-acetylhexosaminohydrolase beta N Acetyl hexosaminidase beta-N-Acetyl-hexosaminidase N-Acetyl-beta-D-hexosaminidase beta-N-Acetyl-D-hexosaminidase beta N Acetylhexosaminidase |
|
AN |
do not confuse with ACETYLGLUCOSAMINIDASE; /defic: consider also TAY SACHS DISEASE and SANDHOFF DISEASE |
|
AQL |
AD AE AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR |
|
cui |
C0005270 |
|
DC |
1 |
|
definition |
A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease. |
|
DX |
19870101 |
|
FX |
D012497 D013661 |
|
HN |
2008(1988) |
|
Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000096 http://purl.bioontology.org/ontology/MESH/Q000172 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 |
http://purl.bioontology.org/ontology/MESH/D020143 |
|
Machine permutation |
2008; see BETA-N-ACETYL-D-HEXOSAMINIDASE 1988-2007 |
|
Mapped from |
http://purl.bioontology.org/ontology/MESH/C110628 |
|
MDA |
19860602 |
|
MMR |
20070709 |
|
MN |
D08.811.277.450.483.180 |
|
notation |
D001619 |
|
prefLabel |
beta-N-Acetylhexosaminidases |
|
TERMUI |
T004669 T004670 T004672 T694278 T004671 T581427 |
|
TH |
NLM (2005) NLM (2008) NLM (1987) UNK (19XX) |
|
tui |
T116 T126 |
|
subClassOf |