TBCD (Tubulin-specific chaperone D) variants and mutations

TBCD (also known as Tubulin-specific chaperone D) is a human protein-coding gene encoding a tubulin-specific chaperone D protein. A tubulin-folding chaperone that helps assemble tubulin complexes and regulate microtubule dynamics. It also acts as a regulator of the ARL2 GTPase and supports mitotic-spindle formation and neuronal morphogenesis. This analysis covers 1,652 TBCD variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic, PEHO syndrome, and neurodegenerative disease. Example TBCD variants include A2T, A2V, and A2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, PharmGKB, MaveDB, LitVar.

Notable TBCD variants

Examples include A2T, A2V, A2S, A2G, A2D, A2A, L3M, L3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.