CAV1(redirected from OTTHUMP00000196475)
CAV1A gene on chromosome 7q31.1 that encodes caveolin 1, the main scaffolding protein of caveolae plasma membranes in most cells. Caveloin 1 links integrin subunits to the tyrosine kinase FYN, an early step in coupling integrins to the Ras-ERK pathway which drives cell cycle progression; CAV1 is a tumour suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and form a stable hetero-oligomeric complex with other colocalising proteins.
CAV1 mutations are linked to congenital generalised lipodystrphy (Berardinelli-Seip syndrome) type 3.
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