UGT1A6

Chr 2

UDP glucuronosyltransferase family 1 member A6

Also known as: GNT1, HLUGP, HLUGP1, UDPGT 1-6, UGT-1F, UGT1-06, UGT1.6, UGT1A6S

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…
1
Active trials
34
Pubs (1 yr)
P/LP submissions
P/LP missense
1.06
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — UGT1A6
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.000
Z-score 1.35
OE 0.67 (0.431.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.03Z-score
OE missense 1.00 (0.901.10)
294 obs / 295.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.431.06)
00.351.4
Missense OE?1.00 (0.901.10)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 13 / 19.4Missense obs/exp: 294 / 295.4Syn Z: -0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UGT1A6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.