Article
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.
The Journal of biological chemistry - 3 Nov 2000
Chen L Y, Lin B, Pan C J, Hiraiwa H, Chou J Y
Abstract excerpt
Deficiencies in glucose 6-phosphate (G6P) transporter (G6PT), a 10-helical endoplasmic reticulum transmembrane protein of 429 amino acids, cause glycogen storage disease type 1b. To date, only three missense mutations in G6PT have been shown to abolish microsomal G6P transport activity. Here, we report the results of structure-function studies on human G6PT and demonstrate that 15 missense mutations and a codon...
Topics
- Amino Acid Sequence
- Animals
- Antiporters
- Base Sequence
- COS Cells
- Cytoplasm
- DNA Primers
- Enzyme Stability
- Humans
- Metabolism, Inborn Errors
- Molecular Sequence Data
- Monosaccharide Transport Proteins
- Mutation
- Phosphotransferases
- Polymorphism, Single-Stranded Conformational
- Protein Conformation
- Protein Folding