Article
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
Biochemistry - 23 Jun 1992
Reichardt J K, Levy H L, Woo S L
Abstract excerpt
We report here the molecular characterization of two galactosemia mutations, L74P and F171S, and one polymorphism, S135L, in human galactose-1-phosphate uridyltransferase (GALT). Both galactosemia mutations result in reduced enzymatic activity when reconstructed in the cDNA and overexpressed. The polymorphism, in contrast, has near normal activity. Both mutations affect evolutionarily conserved residues,...
Topics
- Base Sequence
- Binding Sites
- Galactosemias
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymorphism, Genetic
- Restriction Mapping
- Structure-Activity Relationship
- UTP-Hexose-1-Phosphate Uridylyltransferase