Gene Symbol | TBCE |
Entrez Gene ID | 6905 |
Full Name | tubulin folding cofactor E |
Synonyms | HRD,KCS,KCS1,PEAMO,pac2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Kenny-Caffey syndrome, type 1, 244460 (3); Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3); Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3) |