rs200356271

This variant is located in the TBCE gene.

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ClinVar annotation

Pathogenic★★★☆

12 submitters10 publications

Autosomal recessive Kenny-Caffey syndrome; not provided; Disorder of sexual differentiation; TBCE-related disorder; Hypoparathyroidism-retardation-dysmorphism syndrome;Autosomal recessive Kenny-Caffey syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Nonpapillary renal cell carcinoma

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About TBCE

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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