Protein-coding gene in the species Homo sapiens
Tubulin-specific chaperone E is a protein that in humans is encoded by the "TBCE" gene.
Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene.
The TBCE gene is either deleted or mutated in Sanjad-Sakati Syndrome
References.
 ;templatestyles src="Reflist/styles.css" / ;
Further reading.
 ;templatestyles src="Refbegin/styles.css" / ;