UGT1A10
Chr 2UDP glucuronosyltransferase family 1 member A10
Also known as: UGT-1J, UGT1-10, UGT1.10, UGT1J
This gene encodes UDP-glucuronosyltransferase 1A10, an enzyme that conjugates lipophilic molecules including drugs, hormones, and xenobiotics with glucuronic acid to facilitate their excretion from the body. The gene shows low constraint against loss-of-function variants (high LOEUF score of 1.742), and no Mendelian diseases have been definitively associated with UGT1A10 mutations in current databases. This enzyme is part of a gene cluster that includes UGT1A1, mutations in which cause Gilbert syndrome and Crigler-Najjar syndrome with bilirubin metabolism defects.
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
398 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 | 6 | 1 | 8 | 0 | 15 |
Likely Pathogenic | 7 | 5 | 1 | 0 | 13 |
VUS | 3 | 285 | 7 | 0 | 295 |
Likely Benign | 0 | 25 | 10 | 33 | 68 |
Benign | 0 | 1 | 0 | 1 | 2 |
Conflicting | — | 3 | |||
| Total | 16 | 317 | 26 | 34 | 396 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UGT1A10 · 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 →External Resources
Links to major genomics databases and tools