ALG8

Chr 11

ALG8 alpha-1,3-glucosyltransferase

Also known as: CDG1H, PCLD3

NCBI Gene: 79053 ENSG00000159063 UniProt: Q9BVK2

The encoded protein catalyzes the addition of the second glucose residue to lipid-linked oligosaccharide precursors during N-linked glycosylation of proteins in the endoplasmic reticulum. Mutations cause congenital disorder of glycosylation type Ih and polycystic liver disease 3 with or without kidney cysts, following both autosomal recessive and autosomal dominant inheritance patterns. The pathogenic mechanism involves dominant-negative effects.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 1H

UniProtPolycystic liver disease 3 with or without kidney cysts

Clinical highlights

Gene-disease validity (ClinGen)

autosomal dominant polycystic kidney disease · ADDefinitivesufficient evidence for diagnostic panels

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

0.83

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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