Gene Symbol | CAV3 |
Entrez Gene ID | 859 |
Full Name | caveolin 3 |
Synonyms | LGMD1C,LQT9,VIP-21,VIP21 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy, limb-girdle, type IC, 607801 (3); Rippling muscle disease, 606072 (3); Creatine phosphokinase, elevated serum, 123320 (3); Myopathy, distal, Tateyama type, 614321 (3); Cardiomyopathy, familial hypertrophic, 192600 (3); Long QT syndrome 9, 611818 (3) |