CAV3 caveolin 3
Gene ID: 859, updated on 19-Sep-2024Gene type: protein coding
Also known as: LQT9; MPDT; RMD2; VIP21; LGMD1C; VIP-21
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- Go to complete Gene record for CAV3
- Go to Variation Viewer for CAV3 variants
Summary
This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Distal myopathy, Tateyama type | not available |
| Elevated circulating creatine kinase concentration | not available |
| Hypertrophic cardiomyopathy 1 | not available |
| Long QT syndrome 9 | not available |
| Rippling muscle disease 2 | not available |
Genomic context
- Location:
- 3p25.3
- Sequence:
- Chromosome: 3; NC_000003.12 (8733802..8746758)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAV3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CAV3 @ ZAC-GGM
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Leiden Muscular Dystrophy pages (CAV3)
- 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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