Article
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Human mutation - 1 Jan 1998
Petroulakis E, Cao Z, Clarke J T, Mahuran D J, Lee G, Triggs-Raine B
Abstract excerpt
Mutations in the HEXA gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), that abolish Hex A enzyme activity cause Tay-Sachs disease (TSD), the fatal infantile form of G(M2) gangliosidosis, Type 1. Less severe, subacute (juvenile-onset) and chronic (adult-onset) variants are charac...
Topics
- Adolescent
- Age of Onset
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- COS Cells
- Cell Line
- Electrophoresis, Gel, Pulsed-Field
- Exons
- Fibroblasts
- Hexosaminidase A
- Humans
- Male
- Molecular Sequence Data
- Mutation