Article
Two naturally occurring mutations in the kinase domain of insulin receptor accelerate degradation of the insulin receptor and impair the kinase activity.
The Journal of biological chemistry - 9 Dec 1994
Imamura T, Takata Y, Sasaoka T, Takada Y, Morioka H, Haruta T, Sawa T, Iwanishi M, Hu Y G, Suzuki Y
Abstract excerpt
We identified two novel heterozygous missense mutations of the insulin receptor gene: the Asp1179 mutation in one family and the Leu1193 mutation in two unrelated families with extreme insulin resistance. In these patients, the number of insulin receptors on the cell surface was found to be marke...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Base Sequence
- Binding Sites
- Cells, Cultured
- Child
- Female
- Humans
- Insulin
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Phosphorylation