UGT2B17 Chromosome 4
UDP glucuronosyltransferase family 2 member B17
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What This Gene Does
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]
Gene Info
Gene Group
"UDP glucuronosyltransferases|Minor histocompatibility antigens"
Locus Type
gene with protein product
Location
4q13.2
Ensembl
ENSG00000197888
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143693642 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753978859 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772905355 | Health Risk | Conflicting classifications of pathogenicity | — |