TUSC3
Chr 8ARtumor suppressor candidate 3
Also known as: D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2
The TUSC3 protein functions as an accessory component of the N-oligosaccharyl transferase complex in the endoplasmic reticulum, catalyzing N-linked protein glycosylation and facilitating glycosylation of acceptor sites near cysteine residues. Homozygous mutations cause autosomal recessive intellectual developmental disorder, with this gene being extremely intolerant to loss-of-function variants (pLI ~0.000003). The disorder follows an autosomal recessive inheritance pattern.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TUSC3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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