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UGT2B17 Deletion

Meaning

UGT2B17 deletion refers to a common genetic polymorphism characterized by the complete absence of the UGT2B17 gene on chromosome 4 in a significant portion of the human population. This gene encodes for the enzyme Uridine 5′-diphospho-glucuronosyltransferase 2B17, which is a crucial enzyme for the glucuronidation and subsequent urinary excretion of various steroid hormones, particularly testosterone. The deletion results in a phenotype of significantly lower urinary testosterone/epitestosterone ratios, a factor relevant in both clinical endocrinology and sports anti-doping testing.