UGT1A5
Chr 2UDP glucuronosyltransferase family 1 member A5
Also known as: UDPGT, UDPGT 1-5, UGT1E
This enzyme catalyzes glucuronidation reactions that conjugate lipophilic substrates with glucuronic acid to facilitate their excretion, playing an essential role in drug metabolism and detoxification of xenobiotics and endogenous compounds. The gene shows very low constraint against loss-of-function variants (pLI near 0, LOEUF 1.29), and no definitive Mendelian diseases have been established from mutations in this gene. Based on current evidence, UGT1A5 variants are not considered a cause of pediatric neurological disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
565 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 24 | 5 | 46 | 0 | 75 |
Likely Pathogenic | 18 | 17 | 7 | 0 | 42 |
VUS | 0 | 264 | 33 | 7 | 304 |
Likely Benign | 1 | 18 | 16 | 49 | 84 |
Benign | 0 | 3 | 14 | 2 | 19 |
Conflicting | — | 39 | |||
| Total | 43 | 307 | 116 | 58 | 563 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UGT1A5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools