CYP2D6
Cytochrome P450 2D6
Gene Number: 1565
Location: 22q13.2
Key Functions: Drug metabolism, detoxification, CYP450 enzymatic activity
CYP2D6 encodes cytochrome P450 2D6, a major enzyme involved in the metabolism of 20–25% of commonly prescribed drugs, including antidepressants, beta-blockers, opioids, and antipsychotics.
Genetic variation in CYP2D6 leads to distinct metabolizer phenotypes ranging from poor to ultra-rapid, significantly affecting drug response and risk of adverse effects. Copy number variations and SNPs are both clinically relevant.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs3892097 | No matching variant or no valid DNA data | T | No interpretation available |
rs1065852 | No matching variant or no valid DNA data | A | No interpretation available |
rs3892097
CC – Normal CYP2D6 activity; extensive (normal) metabolizer (R).
TC – One *4 allele; reduced enzyme activity (often intermediate metabolizer, depends on other alleles) (R).
TT – Two *4 alleles; poor metabolizer with very low/absent enzyme activity (R).
Functional effect: The T allele creates a splice defect that yields a *nonfunctional CYP2D6 (4) enzyme, driving poor-metabolizer phenotypes (R).
rs1065852
GG – Normal CYP2D6 activity; extensive (normal) metabolizer (R).
AG – Reduced CYP2D6 activity; decreased drug metabolism (R).
AA – Decreased-function enzyme; commonly associated with the *10 allele and intermediate metabolizer status (context depends on full haplotype) (R).
Functional effect: The A allele reduces enzyme activity/stability and is the defining change of CYP2D6*10 (also present in some other haplotypes), leading to decreased metabolism of many CYP2D6 substrates [R].
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