TBCE

Description

The TBCE (tubulin folding cofactor E) is a protein-coding gene located on chromosome 1.

Tubulin-specific chaperone E is a protein encoded by the TBCE gene in humans. It is one of four cofactors (A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D capture and stabilize beta-tubulin intermediates in a quasi-native conformation. Cofactor E binds to the cofactor D/beta-tubulin complex, and interaction with cofactor C releases beta-tubulin polypeptides committed to the native state. Two transcript variants encoding the same protein have been identified for this gene.

TBCE is also known as HRD, KCS, KCS1, PEAMO, pac2.

Associated Diseases

• Encephalopathy, progressive, with amyotrophy and optic atrophy
• Hypoparathyroidism-retardation-dysmorphism syndrome
• Autosomal recessive Kenny-Caffey syndrome
• Kenny-caffey syndrome, type 1
• Sanjad-Sakati syndrome
• Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome