Enzyme polymorphism is the occurrence of inherited variation in enzyme structure, abundance, or activity within a population. Alternative alleles can encode molecular forms with different biochemical properties or alter the amount of enzyme produced [1]. Such genetic variation contributes to differences in metabolic phenotypes among individuals [2]. In methyltransferases, sequence variation can change enzyme properties and the rate at which particular compounds undergo methylation [3]. Regulatory variants, coding substitutions, and differences in gene copy number can contribute through distinct molecular routes. The observed phenotype also incorporates the cellular environment and the substrate being examined [4]. Characterization links the frequency and identity of inherited variants to measurements of expression or catalytic function, while distinguishing variants with demonstrated functional effects from those without established biochemical consequences [5].
- genetic variation
- enzyme activity
- alleles
- pharmacogenetics
References
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- Richard M. Weinshilboum; Diane M. Otterness; Carol L. Szumlanski; METHYLATION PHARMACOGENETICS: Catechol O-Methyltransferase, Thiopurine Methyltransferase, and Histamine N-Methyltransferase. Annu. Rev. Pharmacol. Toxicol. 1999, 39, 19-52, 10.1146/annurev.pharmtox.39.1.19.
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- Rafał Prost; Wojciech Płaziński; Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences. Int. J. Mol. Sci. 2025, 26, 7797, 10.3390/ijms26167797.