Polymorphism of Δ3,5-Δ2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue
Two polymorphic variants of the ECH1 gene product protein (Δ3,5-Δ2,4-dienoyl-coenzyme A isomerase) have been revealed by proteomics methods in samples of human striated muscle tissue. These variants are identical in molecular weight (29.7 kD) but different in pI values (6.57 and 6.75) and in amino acid substitution (41 E→A) confirmed by mass spectrometry. The same type of polymorphism has been detected in samples of different tissues of the same person, so these variants are considered (also based on other data) to be allelic. The rates of these alleles in two representative cohorts of Moscow and Minsk residents are similar.
Key wordshuman muscle proteinsproteomicspolymorphismΔ3,5-Δ2,4-dienoyl-CoA isomerase
Δ3,5-Δ2,4-dienoyl-coenzyme A isomerase