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…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IICCMIM #621381

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.49

LOEUF

LOF

Mechanism· G2P