TBCE tubulin folding cofactor E
Gene ID: 6905, updated on 7-Apr-2024Gene type: protein coding
Also known as: HRD; KCS; KCS1; pac2; PEAMO
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- Go to complete Gene record for TBCE
- Go to Variation Viewer for TBCE variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive Kenny-Caffey syndrome | See labs |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | See labs |
| Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. GeneReviews: Not available | |
| Hypoparathyroidism-retardation-dysmorphism syndrome | See labs |
Genomic context
- Location:
- 1q42.3
- Sequence:
- Chromosome: 1; NC_000001.11 (235367427..235452443)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBCE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TBCE database
- Variation ViewerRelated Variants
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