rs143800988

This variant is located in the UGT2B17 gene.

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ClinVar annotation

Likely Benign★★★☆

3 submitters1 publication

not provided; UGT2B17-related disorder

About UGT2B17

This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]

View all UGT2B17 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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