Article
A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.
Molecular and cellular endocrinology - 28 Apr 1995
Gast A, Neuschmid-Kaspar F, Klocker H, Cato A C
Abstract excerpt
A single exchange of an alanine to a threonine at amino acid position 596 in the androgen receptor has been identified as an inheritable trait in patients with Reifenstein syndrome. This exchange is a result of a germ line mutation in the genomic DNA sequences that make up the D-loop of the receptor. The D-loop and sequences in the hormone binding domain together provide the interacting surfaces for receptor...
Topics
- Alanine
- Base Sequence
- Binding Sites
- Cell Line
- DNA
- Humans
- Macromolecular Substances
- Molecular Sequence Data
- Mutation
- Protein Conformation
- Receptors, Androgen