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:  
administration & dosage adverse effects
antagonists & inhibitors analysis
biosynthesis blood
cerebrospinal fluid chemistry
classification chemical synthesis
contraindications drug effects
diagnostic use economics
genetics history
immunology isolation & purification
metabolism pharmacology
physiology pharmacokinetics
poisoning radiation effects
supply & distribution secretion
standards toxicity
therapeutic use ultrastructure
urine  
Record Number:   52718 
Unique Identifier:   D054821 

Occurrence in VHL:
 

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