Article
Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A.
Biochemistry - 20 Jan 1998
Xie B, Rigat B, Smiljanic-Georgijev N, Deng H, Mahuran D
Abstract excerpt
The function of the GM2 activator protein is to act as a substrate-specific cofactor in the hydrolysis of GM2 ganglioside by beta-hexosaminidase A. Mutations in the gene encoding it result in the AB variant form of GM2 gangliosidosis. One such mutation, Cys138 Arg, results in the mutant protein b...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Arginine
- CHO Cells
- Cricetinae
- Cysteine
- Disulfides
- Escherichia coli
- G(M2) Activator Protein
- G(M2) Ganglioside
- Gangliosidoses
- Genetic Variation
- Molecular Sequence Data