Symbol: Name: ID: |
CAV3 caveolin 3 GFS:4542 |
Gene name: | CAV3 |
Chromosome: | 3p25 |
Previous Symbols: | |
Previous Names: | |
Aliases: | VIP-21, LGMD1C, VIP21, LQT9 |
Name Aliases: | M-caveolin |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:107570 | Rat Genome Database ID: | RGD:2281 |
HGNC ID: | HGNC:1529 | RefSeq IDs: | NM_001234 |
Entrez Gene ID: | 859 | Ensembl Gene ID: | ENSG00000182533 |
VEGA IDs: | OTTHUMG00000090519 | UniProt ID: | P56539 |
UCSC ID: | uc003brb.2 | OMIM ID: | 601253 |
Pubmed: | PMID9536092 PMID 9537420 | ||
CCDS IDs: | CCDSCCDS2569.1 |
Caveolin-3 is a protein that in humans is encoded by the CAV3 gene.
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].
Function: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress.
Products for CAV3 gene
Catalog | Product Name | Application | Company |
GFS:E04542 | caveolin 3; ELISA kit | ELISA | n/a |
GFS:A04542 | caveolin 3; Anti | ANTIBODIES | n/a |
GFS:P04542 | caveolin 3; Protien | Protien | n/a |