CAV1

CAV1

A 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.

Molecular pathology
CAV1 mutations are linked to congenital generalised lipodystrphy (Berardinelli-Seip syndrome) type 3.
References in periodicals archive ?
3 BSCL2 11q13 CAV1 7q31 Partial lipodystrophy LMNA 1q22 LMNB2 19p13.
Nine candidates failed the initial criteria, such as assay length or unsuitable CpG site location for primer and probe placement [BCOR, BCL6 co-repressor; CAV1, caveolin 1, caveolae protein, 22kDa; CD44, CD44 molecule (Indian blood group); CDH13, cadherin 13, H-cadherin (heart); VCAN (formerly CSPG2), versican; FCGR2A, Fc fragment of IgG, low affinity IIa, receptor (CD32); GSK3B, glycogen synthase kinase 3 beta; PCDH17, protocadherin 17; and TAF11, TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa].
The paper, "Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma," is published online in Nature Genetics at http://www.