TBCD Chromosome 17
Tubulin folding cofactor D
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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 |
|---|---|---|---|
| RS2063243833 | Health Risk | Likely pathogenic | — |
| RS2144674023 | Health Risk | Likely pathogenic | — |
| RS2146947108 | Health Risk | 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 |
| RS2510087925 | Health Risk | Likely pathogenic | — |
| RS2510369372 | Health Risk | Likely pathogenic | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2510548443 | Health Risk | 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 |
| RS2510643985 | Health Risk | 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 |
| RS2510734532 | Health Risk | 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 |
| RS2510761349 | Health Risk | Likely pathogenic | — |
| RS2510782100 | Health Risk | Likely pathogenic | — |
| RS2510905619 | Health Risk | Likely pathogenic | — |
| RS2510937684 | Health Risk | Likely pathogenic | — |
| RS2510940628 | Health Risk | Likely pathogenic | — |
| RS2546499057 | Health Risk | Likely pathogenic | — |
| RS949623707 | Health Risk | Likely pathogenic | — |
| RS1010575243 | Health Risk | Pathogenic | — |
| RS1293165449 | Health Risk | Pathogenic | — |
| RS1325049235 | 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 |
| RS1369494837 | Health Risk | Pathogenic | — |
| RS1386128925 | Health Risk | Pathogenic | — |
| RS1419604407 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1428485417 | 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 |
| RS1449387690 | Health Risk | Pathogenic | — |
| RS1489483742 | Health Risk | Pathogenic | — |
| RS1555649346 | Health Risk | Pathogenic | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS192624334 | Health Risk | Pathogenic | — |
| RS2048139263 | Health Risk | Pathogenic | — |
| RS2060355104 | 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 |
| RS2062306727 | Health Risk | Pathogenic | — |
| RS2509944883 | Health Risk | Pathogenic | — |
| RS2510088557 | Health Risk | Pathogenic | — |
| RS2510088678 | Health Risk | Pathogenic | — |
| RS2510253000 | Health Risk | Pathogenic | — |
| RS2510329001 | Health Risk | Pathogenic | — |
| RS2510348338 | Health Risk | Pathogenic | — |
| RS2510369147 | Health Risk | Pathogenic | — |
| RS2510685983 | Health Risk | Pathogenic | — |
| RS2510686085 | Health Risk | Pathogenic | — |
| RS2510757865 | Health Risk | Pathogenic | — |
| RS2510780750 | Health Risk | Pathogenic | — |
| RS2510784485 | Health Risk | Pathogenic | — |
| RS2510784493 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2510814370 | Health Risk | Pathogenic | — |
| RS2510892439 | Health Risk | Pathogenic | — |
| RS2510906108 | Health Risk | Pathogenic | — |
| RS2510917611 | Health Risk | Pathogenic | — |
| RS752953575 | 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 |
| RS754750539 | 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 |
| RS764085684 | 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 |
| RS767747027 | Health Risk | Pathogenic | — |