TBCE Gene - Tubulin Folding Cofactor E | Function, Mutations & Diseases

The TBCE gene encodes tubulin folding cofactor E, a key chaperone protein involved in the post-translational folding of α-tubulin and the assembly of microtubules. TBCE is part of a multimeric tubulin-folding complex that includes cofactors A–E. It specifically binds to and stabilizes the native conformation of α-tubulin, enabling its heterodimerization with β-tubulin. Mutations in TBCE cause autosomal recessive disorders such as hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome and Kenny-Caffey syndrome type 1 (KCS1), characterized by skeletal abnormalities, growth retardation, and immune dysfunction.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Tubulin folding and microtubule assembly (Reactome: R-HSA-389977)

• Formation of tubulin folding intermediates (Reactome: R-HSA-389958)

Tubulin folding cofactor E (TBCE) is a 527-amino-acid cytosolic protein that acts as a chaperone in the α-tubulin folding pathway. It binds to quasi-native α-tubulin released from the chaperonin TRiC/CCT, stabilizing it and facilitating its heterodimerization with β-tubulin. TBCE contains a CAP-Gly domain essential for microtubule plus-end binding and a leucine-rich repeat (LRR) domain for protein-protein interactions. Defects in TBCE cause severe developmental syndromes due to impaired microtubule function.