Article
Intracellular degradation of histidine-rich glycoprotein mutants: tokushima-1 and 2 mutants are degraded by different proteolytic systems.
Journal of biochemistry - 1 Aug 2000
Wakabayashi S, Yoshida H, Shigekiyo T, Koide T
Abstract excerpt
We reported the first case of a congenital histidine-rich glycoprotein deficiency (HRG Tokushima) in which substitution of Gly85 with Glu (G85E) in the first cystatin domain resulted in intracellular degradation and a low plasma level of HRG [Shigekiyo, T. et al. (1998) Blood 91, 128-133]. Recently, we identified the gene mutation of a second case of HRG deficiency as a Cys223 to Arg (C223R) mutation in the...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Cell Line
- Cricetinae
- Cysteine Endopeptidases
- Molecular Sequence Data
- Multienzyme Complexes
- Mutagenesis, Site-Directed
- Mutation
- Protease Inhibitors
- Proteasome Endopeptidase Complex
- Protein Structure, Secondary
- Proteins
- Histidine-Rich Glycoprotein