The CAV3 gene homepage

General information
Gene symbol CAV3
Gene name caveolin 3
Chromosome 3
Chromosomal band p25
Imprinted -
Genomic reference NG_008797.2
Transcript reference NM_033337.1
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 17
Unique public DNA variants reported 14
Individuals with public variants 0
Hidden variants -
Notes 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]
Also known as: LQT9; VIP21; LGMD1C; VIP-21
Date created April 15, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/CAV3
External URL Leiden Muscular Dystrophy pages
Cav3mut.htm
HGNC 1529
Entrez Gene 859
PubMed articles CAV3
OMIM - Gene 601253
OMIM - Diseases WD (wilson disease)
HGMD CAV3
GeneCards CAV3
GeneTests CAV3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000033 3 caveolin 3 NM_033337.1 - 17


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