Article
An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport.
The Journal of biological chemistry - 5 Jan 1992
van der Vorm E R, van der Zon G C, Möller W, Krans H M, Lindhout D, Maassen J A
Abstract excerpt
In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31. The proband, the mother, and the maternal grandfather were heterozygous for the mutation. Fibroblasts of the proband show a strongly reduced number of high affini...
Topics
- Alleles
- Animals
- Arginine
- Base Sequence
- CHO Cells
- Cricetinae
- Cross-Linking Reagents
- Electrophoresis, Gel, Pulsed-Field
- Female
- Gene Expression
- Glycine
- Heterozygote
- Humans
- Infant
- Insulin Resistance
- Kinetics
- Molecular Sequence Data
- Mutation