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. ,
展开内容