Search on: BETA-HEXOSAMINIDASE ALPHA CHAIN 
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Descriptor English:   beta-Hexosaminidase alpha Chain 
Descriptor Spanish:   Cadena alfa de beta-Hexosaminidasa 
Descriptor Portuguese:   Cadeia alfa da beta-Hexosaminidase 
Tree Number:   D08.811.277.450.483.180.750.500
Definition English:   The alpha subunit of hexosaminidase A. Mutations in the gene that encodes this protein can result in loss of hexosaminidase A activity and are linked to TAY-SACHS DISEASE. 
Entry Combination - descr/qualif English:   beta-Hexosaminidase alpha Chain/deficiency use Tay-Sachs Disease
 
History Note English:   2008 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AN analysis AI antagonists & inhibitors
BI biosynthesis BL blood
CF cerebrospinal fluid CS chemical synthesis
CH chemistry CL classification
CT contraindications DU diagnostic use
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
SE secretion ST standards
SD supply & distribution TU therapeutic use
TO toxicity UL ultrastructure
UR urine  
Record Number:   52717 
Unique Identifier:   D054820 

Occurrence in VHL:
 

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