GENE REFERENCE / HGNC:1527

CAV1

caveolin 1

protein-coding gene7q31.2Gene information

What does this gene do?

The CAV1 gene provides instructions for making a protein called caveolin-1. This protein appears to have diverse functions in cells and tissues throughout the body.

Caveolin-1 is the major component of caveolae, which are small pouches in the membrane that surrounds cells. Caveolae have multiple functions, some of which are not well understood. They are known to be involved in the transport of molecules from the cell membrane to the interior of the cell (endocytosis), processing of molecules on their way into the cell, maintaining the cell structure, and regulating chemical signaling pathways. Studies suggest that caveolae are particularly numerous in adipocytes, which are cells that store fats for energy. Adipocytes make up most of the body's fatty (adipose) tissue. In these cells, caveolae appear to be essential for the normal transport, processing, and storage of fats.

Caveolin-1 is also found in many other parts of cells, where it regulates various chemical signaling pathways. Through these pathways, caveolin-1 is involved in regulating cell growth and division (proliferation), the process by which cells mature to perform specific functions (differentiation), cell survival and the self-destruction of cells (apoptosis), and cell movement. The functions of caveolin-1 likely differ depending on the type of cell and the part of the cell where the protein is found.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2015-12.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
pulmonary arterial hypertensionMONDO:0015924 · Evaluated 2025-07-30	Autosomal dominant	DefinitivePulmonary Hypertension Gene Curation Expert Panel
lipodystrophyMONDO:0006573 · Evaluated 2025-07-16	Autosomal dominant	LimitedMonogenic Diabetes Gene Curation Expert Panel
congenital generalized lipodystrophy type 3MONDO:0012923 · Evaluated 2025-06-11	Autosomal recessive	DefinitiveMonogenic Diabetes Gene Curation Expert Panel
amyotrophic lateral sclerosisMONDO:0004976 · Evaluated 2023-12-21	Autosomal dominant	LimitedAmyotrophic Lateral Sclerosis Spectrum Disorders Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 236
Submissions for variants in or overlapping this gene: 347
Submissions explicitly reporting this gene: 307
Alleles reported pathogenic / likely pathogenic: 14
VariationIDs with uncertain significance: 85
VariationIDs with conflicting classifications: 7

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CAV1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 14 alleles in CAV1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CAV1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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