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Isolation of a cDNA encoding the human GM2 activator protein
M Schröder1, H Klima, T Nakano
1Institut für Organische Chemie und Biochemie, Bonn, FRG.
FEBS Letters
|July 17, 1989
Summary
Researchers identified a cDNA clone for the GM2 activator protein, crucial for breaking down ganglioside GM2. This discovery aids in studying the protein's function and genetic disorders like GM2 gangliosidosis AB variant.
Area of Science:
- Biochemistry
- Molecular Biology
- Genetics
Background:
- The GM2 activator protein is essential for lysosomal degradation of the glycolipid ganglioside GM2.
- Defects in this pathway lead to GM2 gangliosidosis, including the AB variant.
Purpose of the Study:
- To isolate and characterize the cDNA encoding the human GM2 activator protein.
- To provide a tool for further research into GM2 activator protein function and related genetic disorders.
Main Methods:
- Screening of a human fibroblast cDNA library using degenerate oligonucleotide probes.
- Purification and sequencing of a positive cDNA clone.
- Sequence analysis to confirm identity and length.
Main Results:
- A putative cDNA clone of 821 bp was identified.
- The sequence corresponded to the 160 amino acid mature GM2 activator protein.
- The clone's sequence was colinear with the known protein sequence.
Conclusions:
- The isolated cDNA clone represents the human GM2 activator protein.
- This clone will facilitate functional studies and research into GM2 gangliosidosis AB variant genetics.