ALG14
Chr 1ARALG14 UDP-N-acetylglucosaminyltransferase subunit
Also known as: CMS15, IDDEBF, MEPCA
The protein forms a subunit of UDP-GlcNAc transferase with ALG13, catalyzing the first two committed steps in endoplasmic reticulum N-linked glycosylation. Autosomal recessive mutations cause congenital myasthenic syndrome without tubular aggregates, intellectual developmental disorder with epilepsy and behavioral abnormalities, or myopathy with epilepsy and progressive cerebral atrophy. The pathogenic mechanism appears to involve dominant-negative effects disrupting the glycosylation pathway.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALG14 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools