Home > Gene Browser > UGT2B17

UGT2B17

Synonyms
BMND12, UDPGT2B17
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,913
Likely benign
852
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on UGT2B17 gene.

Phenotype class
Patients in 3billion (%)

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