ALG13
Chr XX-linkedALG13 UDP-N-acetylglucosaminyltransferase subunit
Also known as: CDG1S, CXorf45, DEE36, EIEE36, GLT28D1, MDS031, TDRD13, YGL047W
The ALG13 protein is the catalytic subunit of a UDP-N-acetylglucosamine transferase complex that catalyzes the second step in dolichol-linked oligosaccharide biosynthesis, essential for N-linked protein glycosylation in the endoplasmic reticulum. Mutations cause developmental and epileptic encephalopathy 36 through an X-linked inheritance pattern, predominantly through loss-of-function mechanisms that disrupt this critical glycosylation pathway. The gene shows extreme intolerance to loss-of-function variants, consistent with haploinsufficiency being pathogenic in this X-linked disorder.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALG13 · 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