| Entrez gene ID | | 859 |
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| Official gene symbol | | CAV3 |
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| Full name | | caveolin 3 |
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| Aliases | | ,LGMD1C,LQT9,MGC126100,MGC126101,MGC126129,VIP-21,VIP21, |
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| Gene 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] |
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| Location | | Chromosome: 3 Locus: 3p25 |
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| Gene position | | 8775486 - 8788451 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 12966 bp |
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| Gene sequence |
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| OMIM ID | | 601253 |
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