Disease:Defects in CAV1 are the cause of congenital generalized lipodystrophy type 3 (CGL3) [MIM:612526]; also called Berardinelli-Seip congenital lipodystrophy type 3 (BSCL3). Congenital generalized lipodystrophies are autosomal recessive disorders characterized by a near absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.,Function:May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity.,online information:Caveolin entry,PTM:The initiator methionine for isoform Beta is removed during or just after translation. The new N-terminal amino acid is then N-acetylated.,similarity:Belongs to the caveolin family.,subcellular location:Potential hairpin-like structure in the membrane. Membrane protein of caveolae.,subunit:Homooligomer. Interacts with GLIPR2, NOSTRIN, SNAP25 and syntaxin. Interacts with rotavirus A NSP4.,tissue specificity:In muscle and lung, less so in liver, brain and kidney.,
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