UGGT1

Chr 2AR

UDP-glucose glycoprotein glucosyltransferase 1

Also known as: CDG2CC, HUGT1, UGCGL1, UGT1

NCBI Gene: 56886 ENSG00000136731 UniProt: Q9NYU2 OMIM: 605897

UDP-glucose:glycoprotein glucosyltransferase functions as a quality control enzyme in the endoplasmic reticulum, recognizing misfolded glycoproteins and reglucosylating them to facilitate proper protein folding or degradation. Biallelic mutations cause congenital disorder of glycosylation type IICC with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.491), indicating intolerance to functional disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.491 OMIM phenotype

Clinical Summary— UGGT1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

11 unique Pathogenic / Likely Pathogenic· 181 VUS of 264 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.49LOEUF

pLI 0.000

Z-score 5.56

OE 0.37 (0.28–0.49)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.08Z-score

OE missense 0.89 (0.84–0.95)

737 obs / 824.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.37 (0.28–0.49)

0≤0.351.4

Missense OE?0.89 (0.84–0.95)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 33 / 89.9Missense obs/exp: 737 / 824.1Syn Z: 1.27

ClinVar Variant Classifications

264 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10

Likely Pathogenic1

VUS181

Likely Benign12

Benign14

Pathogenic

Likely Pathogenic

181

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	4	4	2	0	10
Likely Pathogenic	1	0	0	0	1
VUS	1	180	0	0	181
Likely Benign	0	8	3	1	12
Benign	0	5	2	7	14
Total	6	197	7	8	218

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

19 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap UGGT1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →