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Descriptor English: Hexosaminidase A
Descriptor Spanish: Hexosaminidasa A
Descriptor hexosaminidasa A
Entry term(s) hex A
Scope note: Isoforma de beta-hexosaminidasa de los mamíferos que es una proteína heteromérica compuesta de subunidades hexosaminidasa alfa y hexosaminidasa beta. La deficiencia en hexosaminidasa A debida a mutaciones en el gen que codifica la subunidad hexosaminidasa alfa causa la ENFERMEDAD DE TAY-SACHS. La deficiencia de hexosaminidasa A y de HEXOSAMINIDASA B debida a mutaciones en el gen que codifica la subunidad hexosaminidasa beta causa la ENFERMEDAD DE SANDHOFF.
Descriptor Portuguese: Hexosaminidase A
Descriptor French: Hexosaminidase A
Entry term(s): Hex A
beta N Acetylhexosaminidase A
beta-N-Acetylhexosaminidase A
Tree number(s): D08.811.277.450.483.180.750
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D054818
Scope note: 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.
Annotation: for deficiency consider: SANDHOFF DISEASE or TAY-SACHS DISEASE
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Registry Number: EC 3.2.1.52
Previous Indexing: beta-N-Acetylhexosaminidases (1999-2007)
Public MeSH Note: 2008; for HEXOSAMINIDASE A see BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
History Note: 2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
Related: Sandhoff Disease MeSH
Tay-Sachs Disease MeSH
DeCS ID: 52716
Unique ID: D054818
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2008/01/01
Date of Entry: 2007/07/09
Revision Date: 2009/07/21
Hexosaminidase A - Preferred
Concept UI M0002425
Scope note 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.
Preferred term Hexosaminidase A
Entry term(s) Hex A
beta N Acetylhexosaminidase A
beta-N-Acetylhexosaminidase A



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