Concept information
Preferred term
Hexosaminidase A
Type
-
mesh:Descriptor
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.
Broader concept
Narrower concepts
Entry terms
- beta-N-Acetylhexosaminidase A
- Hex A
Allowable Qualifier(s)
- administration & dosage (Qualifier)
- adverse effects (Qualifier)
- analysis (Qualifier)
- antagonists & inhibitors (Qualifier)
- biosynthesis (Qualifier)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemical synthesis (Qualifier)
- chemistry (Qualifier)
- classification (Qualifier)
- drug effects (Qualifier)
- economics (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- isolation & purification (Qualifier)
- metabolism (Qualifier)
- pharmacokinetics (Qualifier)
- pharmacology (Qualifier)
- physiology (Qualifier)
- poisoning (Qualifier)
- radiation effects (Qualifier)
- standards (Qualifier)
- supply & distribution (Qualifier)
- therapeutic use (Qualifier)
- toxicity (Qualifier)
- ultrastructure (Qualifier)
- urine (Qualifier)
In other languages
-
French
-
beta-N-Acetylhexosaminidase A
-
bêta-N-Acétylhexosaminidase A
-
Hex A
-
Hex-A
URI
http://data.loterre.fr/ark:/67375/JVR-L9C40NX3-5
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