TBCE Chromosome 1
Tubulin folding cofactor E
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What This Gene Does
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]
Associated Conditions (15)
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE-related disorder
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Gastric cancer
Thymoma
Inborn genetic diseases
Encephalopathy
progressive
with amyotrophy and optic atrophy
Autosomal recessive Kenny-Caffey syndrome
Chronic lymphocytic leukemia/small lymphocytic lymphoma
See cases
Disorder of sexual differentiation
Nonpapillary renal cell carcinoma
Key Variants
RS138014826
Conflicting classifications of pathogenicity
Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
Health Risk
RS139440109
Conflicting classifications of pathogenicity
Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
Health Risk
RS140662460
Conflicting classifications of pathogenicity
Hypoparathyroidism-retardation-dysmorphism syndrome, TBCE-related disorder, Hypoparathyroidism-retardation-dysmorphism syndrome
Health Risk
RS141498084
Conflicting classifications of pathogenicity
Health Risk
RS143717755
Conflicting classifications of pathogenicity
Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
Health Risk
RS143886167
Conflicting classifications of pathogenicity
Hypoparathyroidism-retardation-dysmorphism syndrome, TBCE-related disorder, Ovarian serous cystadenocarcinoma
Health Risk
RS144448831
Conflicting classifications of pathogenicity
TBCE-related disorder, TBCE-related disorder
Health Risk
RS144747353
Conflicting classifications of pathogenicity
TBCE-related disorder, TBCE-related disorder
Health Risk
RS147049084
Conflicting classifications of pathogenicity
Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
Health Risk
RS181223923
Conflicting classifications of pathogenicity
Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
Health Risk
RS182294717
Conflicting classifications of pathogenicity
Health Risk
RS199555636
Conflicting classifications of pathogenicity
Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138014826 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS139440109 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS140662460 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, TBCE-related disorder, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS141498084 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143717755 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS143886167 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, TBCE-related disorder, Ovarian serous cystadenocarcinoma |
| RS144448831 | Health Risk | Conflicting classifications of pathogenicity | TBCE-related disorder, TBCE-related disorder |
| RS144747353 | Health Risk | Conflicting classifications of pathogenicity | TBCE-related disorder, TBCE-related disorder |
| RS147049084 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS181223923 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS182294717 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199555636 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS199888401 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199943206 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS200022583 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Inborn genetic diseases, Encephalopathy |
| RS200169233 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS202063874 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, TBCE-related disorder, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS2102857548 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370888603 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS372236046 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569925016 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746593718 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive Kenny-Caffey syndrome, Inborn genetic diseases |
| RS748495327 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS754279473 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS757127216 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762683460 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS763855483 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome, Encephalopathy |
| RS886046149 | Health Risk | Conflicting classifications of pathogenicity | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS1188106799 | Health Risk | Likely pathogenic | Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome, Encephalopathy |
| RS1239200181 | Health Risk | Likely pathogenic | — |
| RS1283368278 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553336397 | Health Risk | Likely pathogenic | Encephalopathy, progressive, with amyotrophy and optic atrophy |
| RS1553339816 | Health Risk | Likely pathogenic | — |
| RS1680011412 | Health Risk | Likely pathogenic | — |
| RS1681531187 | Health Risk | Likely pathogenic | Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome, Encephalopathy |
| RS2102920283 | Health Risk | Likely pathogenic | Encephalopathy, progressive, with amyotrophy and optic atrophy |
| RS2526937956 | Health Risk | Likely pathogenic | — |
| RS377061675 | Health Risk | Likely pathogenic | — |
| RS1179717146 | Health Risk | Pathogenic | — |
| RS121908384 | Health Risk | Pathogenic | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS1303235274 | Health Risk | Pathogenic | — |
| RS139840338 | Health Risk | Pathogenic | — |
| RS1400319415 | Health Risk | Pathogenic | — |
| RS1408765134 | Health Risk | Pathogenic | — |
| RS142349400 | Health Risk | Pathogenic | — |
| RS1572324681 | Health Risk | Pathogenic | Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome |
| RS1681530018 | Health Risk | Pathogenic | — |
| RS1681536460 | Health Risk | Pathogenic | — |
| RS2526997211 | Health Risk | Pathogenic | — |
| RS2526997302 | Health Risk | Pathogenic | — |