UGT1A7
Chr 2UDP glucuronosyltransferase family 1 member A7
Also known as: UDPGT 1-7, UGT-1G, UGT1-07, UGT1.7, UGT1G
This gene encodes UDP-glucuronosyltransferase 1A7, an enzyme that conjugates lipophilic substrates with glucuronic acid to facilitate their excretion, playing a critical role in drug metabolism and detoxification of endogenous compounds including hormones and xenobiotics. The gene is tolerant to loss-of-function variants (LOEUF 1.463), and while mutations in related UGT1A genes cause Gilbert syndrome and Crigler-Najjar syndrome with autosomal recessive inheritance, specific disease associations for UGT1A7 mutations are not well-established in the pediatric population. UGT1A7 is part of a complex locus encoding multiple UDP-glucuronosyltransferases that primarily affects drug metabolism and detoxification pathways.
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
494 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 | 8 | 1 | 14 | 0 | 23 |
Likely Pathogenic | 8 | 8 | 2 | 0 | 18 |
VUS | 3 | 314 | 23 | 4 | 344 |
Likely Benign | 1 | 26 | 11 | 42 | 80 |
Benign | 0 | 3 | 3 | 3 | 9 |
Conflicting | — | 18 | |||
| Total | 20 | 352 | 53 | 49 | 492 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UGT1A7 · 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