ALG12

Chr 22

ALG12 alpha-1,6-mannosyltransferase

Also known as: CDG1G, ECM39, PP14673, hALG12

NCBI Gene: 79087 ENSG00000182858 UniProt: Q9BV10

This protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor required for N-linked protein glycosylation. Mutations cause congenital disorder of glycosylation type Ig (CDG-Ig) through autosomal recessive inheritance, resulting in abnormal N-glycosylation due to loss of enzyme function.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 1G

Clinical highlights

Gene-disease validity (ClinGen)

ALG12-congenital disorder of glycosylation · ARDefinitivesufficient 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

—

P/LP missense

1.03

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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