rs2510347955
This variant is located in the TBCD gene.
▶ClinVar annotation
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
View on ClinVar →About TBCD
Cofactor D 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. [provided by RefSeq, Jul 2008]
View all TBCD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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