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 |
|---|---|---|---|
| RS2527012076 | Health Risk | Pathogenic | — |
| RS2527012164 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2527012174 | Health Risk | Pathogenic | — |
| RS2527028214 | Health Risk | Pathogenic | — |
| RS2527038818 | Health Risk | Pathogenic | — |
| RS2527039167 | Health Risk | Pathogenic | — |
| RS2527051551 | Health Risk | Pathogenic | — |
| RS2527071591 | Health Risk | Pathogenic | — |
| RS2527071646 | Health Risk | Pathogenic | — |
| RS2527078373 | Health Risk | Pathogenic | — |
| RS370534306 | Health Risk | Pathogenic | — |
| RS377572633 | Health Risk | Pathogenic | — |
| RS750781063 | Health Risk | Pathogenic | Encephalopathy, progressive, with amyotrophy and optic atrophy |
| RS752790319 | Health Risk | Pathogenic | — |
| RS755798626 | Health Risk | Pathogenic | — |
| RS775360097 | Health Risk | Pathogenic | — |
| RS780909684 | Health Risk | Pathogenic | — |
| RS903796415 | Health Risk | Pathogenic | — |
| RS1226347591 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS1329466833 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive Kenny-Caffey syndrome, Encephalopathy, progressive |
| RS1572391840 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive Kenny-Caffey syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome |
| RS200356271 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive Kenny-Caffey syndrome, Disorder of sexual differentiation, TBCE-related disorder |
| RS758937799 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive Kenny-Caffey syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome, Encephalopathy |
| RS767004810 | Health Risk | Pathogenic/Likely pathogenic | Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome, Encephalopathy |
| RS780472451 | Health Risk | Pathogenic/Likely pathogenic | Encephalopathy, progressive, with amyotrophy and optic atrophy |