TBCD Chromosome 17
Tubulin folding cofactor D
Upload your DNA to see your personal genotypes for variants in TBCD.
What This Gene Does
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]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000141556
Associated Conditions (10)
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
See cases
Inborn genetic diseases
Intellectual disability
TBCD-related disorder
Thiel-Behnke corneal dystrophy
Gastric cancer
Nonpapillary renal cell carcinoma
Hepatocellular carcinoma
Familial cancer of breast
Key Variants
RS1014471246
Conflicting classifications of pathogenicity
Health Risk
RS1064796675
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS116536514
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1276630036
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS1284192515
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS1311737177
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS139015738
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS183349235
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS183455339
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS186699341
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS187081192
Conflicting classifications of pathogenicity
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Inborn genetic diseases, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Health Risk
RS188081246
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769109745 | Health Risk | Pathogenic | — |
| RS769131046 | Health Risk | Pathogenic | — |
| RS769857214 | Health Risk | Pathogenic | — |
| RS770137069 | Health Risk | Pathogenic | — |
| RS867075139 | Health Risk | Pathogenic | — |
| RS886041084 | Health Risk | Pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS886041085 | Health Risk | Pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS886041086 | Health Risk | Pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS886041087 | Health Risk | Pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS933572056 | Health Risk | Pathogenic | — |
| RS1161413517 | Health Risk | Pathogenic/Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS1409600874 | Health Risk | Pathogenic/Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS1555641324 | Health Risk | Pathogenic/Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS181969865 | Health Risk | Pathogenic/Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS748615072 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS750717767 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS751190601 | Health Risk | Pathogenic/Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS751754677 | Health Risk | Pathogenic/Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS773790897 | Health Risk | Pathogenic/Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| RS775014444 | Health Risk | Pathogenic/Likely pathogenic | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |