Search on: BETA-HEXOSAMINIDASE BETA CHAIN 
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Descriptor English:   beta-Hexosaminidase beta Chain 
Descriptor Spanish:   Cadena beta de beta-Hexosaminidasa 
Descriptor Portuguese:   Cadeia beta da beta-Hexosaminidase 
Tree Number:   D08.811.277.450.483.180.750.750
D08.811.277.450.483.180.875.500
Definition English:   The beta subunit of hexosaminidase A and hexosamininidase B. Mutations in the gene that encodes this protein are linked to SANDHOFF DISEASE and can result in loss of both hexosaminidase A activity and hexosaminidase B activity. 
Entry Combination - descr/qualif English:   beta-Hexosaminidase beta Chain/deficiency use Sandhoff 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:   52718 
Unique Identifier:   D054821 

Occurrence in VHL:
 

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