Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.6.1 (
sulfatase
)
3,205
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The IIIa and IIIb electrophoretic variants of
arylsulfatase A
(EC 3.1.6.8) are 12 times more prevalent in alcoholic than in nonalcoholic populations. These variant enzymes, found in a subset of alcoholics, possess the pseudodeficient Asn350-Ser mutation of
arylsulfatase A
and, consequently, lack an N-linked glycan unit. These genetically determined variants of
arylsulfatase A
show reduced intracellular half-life, and cells from such individuals possess reduced enzymic activity. We propose that this polymorphism is an underlying genetic and biochemical factor contributing to the neuropathology and/or
addiction
pathway of this disease.
...
PMID:Association of alcoholism with the N-glycosylation polymorphism of pseudodeficient human arylsulfatase A. 873 Feb 12
