Article
Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.
American journal of human genetics - 1 Sept 1990
Martiniuk F, Bodkin M, Tzall S, Hirschhorn R
Abstract excerpt
The lysosomal enzyme termed acid alpha glucosidase (GAA), or acid maltase, is genetically polymorphic, with three alleles segregating in the normal population. The rarer GAA 2 allozyme has a lower affinity for glycogen and starch but not for lower-molecular-weight substrates. The GAA 2 allozyme can be detected by "affinity" electrophoresis in starch gel, since the lower affinity for the starch matrix results in a...
Topics
- Alleles
- Amino Acid Sequence
- Base Composition
- Base Sequence
- Cell Line
- DNA
- Electrophoresis, Starch Gel
- Exons
- Fibroblasts
- Gene Expression
- Glycogen