UGT2B28

Chr 4

UDP glucuronosyltransferase family 2 member B28

NCBI Gene: 54490 ENSG00000135226 UniProt: Q9BY64

The protein is a UDP-glucuronosyltransferase that catalyzes glucuronidation reactions, conjugating lipophilic substrates including steroid hormones, bile acids, and xenobiotics with glucuronic acid to facilitate their excretion and detoxification. This gene is not well-constrained against loss-of-function variants and no established Mendelian diseases have been associated with UGT2B28 mutations in the pediatric population. Clinical significance of variants in this gene remains unclear in the context of pediatric neurogenetic disorders.

ResearchSummary from RefSeq, UniProt

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. Two transcript variants encoding different isoforms have been found for this gene. While both isoforms are targeted to the endoplasmic reticulum, only the longer isoform appears to be active. [provided by RefSeq, May 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)