rs121434501
This is a stop gained variant in the CAV1 gene.
▶ClinVar annotation
Congenital generalized lipodystrophy type 3; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (FPLD7)
View on ClinVar →About CAV1
The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor 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 express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
View all CAV1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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