Gene: TBCD

Alternate names for this Gene: PEBAT|SSD-1|tfcD

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: tubulin folding cofactor D

Type of Gene: protein-coding

rs9896933 in TBCD gene and Asthma PMID 26025128 2015 We have identified 2 novel tubulin γ pathway SNPs, rs9896933 and rs2074439, showing independent interactive effects with cumulative corticosteroid dose on BMA in children with asthma receiving multiple OCS bursts.

rs181969865 in TBCD gene and ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM PMID 28158450 2016 Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

PMID 27807845 2017 Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

PMID 27666370 2016 Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

PMID 27666374 2016 Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

rs111873142 in TBCD gene and Fetal Membranes, Premature Rupture PMID 31194736 2019 Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2.

rs79316200 in TBCD gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.