CCT5 chaperonin containing TCP1 subunit 5
Gene ID: 22948, updated on 14-Nov-2024Gene type: protein coding
Also known as: CCTE; HSNSP; HEL-S-69; PNAS-102; CCT-epsilon; TCP-1-epsilon
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- Go to complete Gene record for CCT5
- Go to Variation Viewer for CCT5 variants
Summary
The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region. GeneReviews: Not available | |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | See labs |
Genomic context
- Location:
- 5p15.2
- Sequence:
- Chromosome: 5; NC_000005.10 (10249921..10266412)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CCT5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCT5 homepage - Leiden Muscular Dystrophy pages
- 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
- Variation ViewerRelated Variants
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