UGT8

Chr 4

UDP glycosyltransferase 8

Also known as: CGT, UGT4

NCBI Gene: 7368ENSG00000174607UniProt: Q16880OMIM: 601291

The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.028
Z-score 2.70
OE 0.32 (0.18–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.66Z-score
OE missense 0.73 (0.65–0.81)
210 obs / 289.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.32 (0.18–0.64)
0≤0.351.4
Missense OE?0.73 (0.65–0.81)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 6 / 18.5Missense obs/exp: 210 / 289.5Syn Z: -0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

UGT8 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients