CAV3 caveolin 3

Gene ID: 859, updated on 4-Jan-2025
Gene type: protein coding
Also known as: LQT9; MPDT; RMD2; VIP21; LGMD1C; VIP-21

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 MedGen: C3280443OMIM: 614321GeneReviews: Not available	See labs
Elevated circulating creatine kinase concentration MedGen: C0241005OMIM: 123320GeneReviews: Not available	See labs
Hypertrophic cardiomyopathy 1 MedGen: C3495498OMIM: 192600GeneReviews: Hypertrophic Cardiomyopathy Overview	See labs
Long QT syndrome 9 MedGen: C2678485OMIM: 611818GeneReviews: Long QT Syndrome Overview	See labs
Rippling muscle disease 2 MedGen: C1832560OMIM: 606072GeneReviews: Not available	See labs

Genomic context

Location:: 3p25.3

Sequence:: Chromosome: 3; NC_000003.12 (8733802..8746758)

Total number of exons:: 2

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

CAV3 @ ZAC-GGM
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
Leiden Muscular Dystrophy pages (CAV3)
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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