UGT2B15

Chr 4

UDP glucuronosyltransferase family 2 member B15

Also known as: HLUG4, UDPGT 2B8, UDPGT2B15, UDPGTH3, UGT2B8

NCBI Gene: 7366 ENSG00000196620 UniProt: P54855 OMIM: 600069

This gene encodes UDP-glucuronosyltransferase 2B15, an enzyme that conjugates glucuronic acid to steroid hormones (testosterone, estradiol) and xenobiotic compounds to facilitate their elimination from the body. The gene shows very low constraint against loss-of-function variants (high LOEUF score), and no definitive disease associations have been established from the provided information. While UGT2B15 is important for detoxification and hormone metabolism, pathogenic variants causing pediatric neurologic disease are not documented in this dataset.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a glycosyltransferase that is invovled in the metabolism and elimination of toxic compounts, both endogenous and of xenobiotic origin. This gene plays a role in the regulation of estrogens and androgens. This locus is present in a cluster of similar genes and pseudogenes on chromosome 4. [provided by RefSeq, Aug 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.73

LOEUF

Multiple*

Mechanism· predicted