TBCD
Chr 17ARtubulin folding cofactor D
Also known as: PEBAT, SSD-1, tfcD
Cofactor D functions as a tubulin-folding protein required for beta-tubulin assembly and microtubule dynamics, and is essential for mitotic spindle assembly and neuron morphogenesis. Biallelic mutations cause autosomal recessive progressive encephalopathy with early onset, brain atrophy, and thin corpus callosum. This gene is highly constrained against loss-of-function variants (LOEUF 0.493), indicating that heterozygous loss alone is likely detrimental.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
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
TBCD · 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