Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.

doi:10.1023/a:1005366224351

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Article

Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.

Journal of inherited metabolic disease - 1 Sept 1997

Fitzmaurice T F, Desnick R J, Bishop D F

Abstract excerpt

Human alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A) is the lysosomal exoglycosidase responsible for the hydrolysis of terminal alpha-galactosyl residues from glycoconjugates and is the defective enzyme causing Fabry disease (McKusick 301500). An unusally elevated level of plasma alpha-Gal A ac...

Topics

Alleles
Base Sequence
Humans
Molecular Sequence Data
Mutation
Nucleic Acid Hybridization
Protein Biosynthesis
Transcription, Genetic
alpha-Galactosidase

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