CAV1 Chromosome 7
Caveolin 1
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What This Gene Does
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]
Gene Info
Gene Group
Caveolins
Locus Type
gene with protein product
Location
7q31.2
Ensembl
ENSG00000105974
Associated Conditions (11)
Pulmonary hypertension
primary
3
Inborn genetic diseases
Amyotrophic lateral sclerosis
CAV1-related disorder
Monogenic diabetes
Congenital generalized lipodystrophy type 3
Partial lipodystrophy
congenital cataracts
and neurodegeneration syndrome
Key Variants
RS140936491
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 3
Health Risk
RS150051547
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyotrophic lateral sclerosis, Inborn genetic diseases
Health Risk
RS150368249
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 3
Health Risk
RS201966419
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 3
Health Risk
RS369262127
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 3
Health Risk
RS370105972
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 3
Health Risk
RS2116117201
Likely pathogenic
Pulmonary hypertension, primary, 3
Health Risk
RS2485219428
Likely pathogenic
CAV1-related disorder, CAV1-related disorder
Health Risk
RS2485219617
Likely pathogenic
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Health Risk
RS121434501
Pathogenic
Congenital generalized lipodystrophy type 3, Partial lipodystrophy, congenital cataracts
Health Risk
RS2116116365
Pathogenic
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Health Risk
RS2485218609
Pathogenic
Congenital generalized lipodystrophy type 3, Congenital generalized lipodystrophy type 3
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140936491 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 3 |
| RS150051547 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Amyotrophic lateral sclerosis, Inborn genetic diseases |
| RS150368249 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 3 |
| RS201966419 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 3 |
| RS369262127 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 3 |
| RS370105972 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary hypertension, primary, 3 |
| RS2116117201 | Health Risk | Likely pathogenic | Pulmonary hypertension, primary, 3 |
| RS2485219428 | Health Risk | Likely pathogenic | CAV1-related disorder, CAV1-related disorder |
| RS2485219617 | Health Risk | Likely pathogenic | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
| RS121434501 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 3, Partial lipodystrophy, congenital cataracts |
| RS2116116365 | Health Risk | Pathogenic | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
| RS2485218609 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 3, Congenital generalized lipodystrophy type 3 |
| RS587777017 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 3 |
| RS587780295 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 3 |
| RS797044871 | Health Risk | Pathogenic | Inborn genetic diseases, Congenital generalized lipodystrophy type 3, Pulmonary hypertension |
| RS797045176 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 3, Partial lipodystrophy, congenital cataracts |
| RS879255566 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 3 |
| RS879255578 | Health Risk | Pathogenic | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |