Concept information
Término preferido
Hexosaminidase A
Notice: Undefined index: in /var/www/html/model/Concept.php on line 545
Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Conceptos específicos
Etiquetas alternativas
- beta-N-Acetylhexosaminidase A
- Hex A
En otras lenguas
-
francés
-
beta-N-Acetylhexosaminidase A
-
bêta-N-Acétylhexosaminidase A
-
Hex A
-
Hex-A
URI
http://data.loterre.fr/ark:/67375/JVR-L9C40NX3-5
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}