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TBCE
Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
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Tubulin-specific chaperone E is a protein that in humans is encoded by the TBCE gene.[4][5]
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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.[5]
The TBCE gene is either deleted or mutated in Sanjad-Sakati Syndrome
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