| 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 |