CAV3

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]

Description

Caveolin 3

Tissue specificity

Group enriched (skeletal muscle, tongue)

Subcell location

Vesicles, Plasma membrane

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

3 (8733802 - 8841808)

Ensembl ID

ENSG00000182533  (ver. 103.38)

Orthologs

Mouse Cav3: ENSMUSG00000062694

UniProt

P56539

neXtProt

NX_P56539

Human splice variants
Mouse splice variants

Protein structure