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Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1)
1Institut für Physiologische Chemie, Medizinische Fakultät, Ruhr-Universität Bochum, Germany.
Human Genetics
|November 1, 1995
Abstract:
Muscle glycogenosis caused by phosphorylase kinase (Phk) deficiency may lead to exercise intolerance, weakness and musculatur atrophy. The gene encoding the muscle isoform of the Phk gamma subunit (gamma M) is one of the candidate genes in which mutations responsible for this condition should be sought. Here, we report the cDNA sequence and the predicted primary structure of the human gamma M subunit.
Insights
Phosphorylase kinase (Phk) deficiency causes muscle glycogenosis, leading to weakness. Researchers identified the human gamma M subunit gene
Area of Science:
- Biochemistry
- Molecular Biology
- Genetics
Background:
- Muscle glycogenosis is a metabolic disorder.
- Phosphorylase kinase (Phk) deficiency is a known cause of muscle glycogenosis.
- Symptoms include exercise intolerance, muscle weakness, and atrophy.
Purpose of the Study:
- To identify the gene responsible for muscle glycogenosis.
- To characterize the human gamma M subunit of Phk.
Main Methods:
- cDNA sequencing
- Primary structure prediction
Main Results:
- The cDNA sequence of the human gamma M subunit was determined.
- The predicted primary structure of the human gamma M subunit was established.
Conclusions:
- The gene encoding the muscle isoform of the Phk gamma subunit (gamma M) is a candidate gene for mutations causing muscle glycogenosis.
- This study provides foundational data for further research into Phk deficiency and muscle glycogenosis.