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CAV1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CAV1 gene

The CAV1 gene encodes the caveolin-1 protein, which is vital for maintaining cell structure and regulating fat storage in adipose tissue.

Normal Function

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. 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. 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.

Health Conditions Related to Genetic Changes

Congenital generalized lipodystrophy

At least one mutation in the CAV1 gene has been found to cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 3. This rare condition is characterized by an almost total absence of adipose tissue and a very muscular appearance. A shortage of adipose tissue leads to multiple health problems, including high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia) and diabetes mellitus.

The identified mutation replaces a single protein building block (amino acid) with a premature stop signal at position 38 of the caveolin-1 protein. This mutation occurs in both copies of the CAV1 gene in each cell, and it prevents cells from producing any functional caveolin-1. The absence of caveolin-1 likely disrupts the normal development and function of adipocytes, which prevents fats from being stored normally in adipose tissue.

Other disorders

Mutations in the CAV1 gene have been found to cause several other forms of lipodystrophy, including:

  • Atypical partial lipodystrophy: Characterized by the loss of fat under the skin of the face and upper body, hypertriglyceridemia, and clouding of the lens of the eyes starting at birth (congenital cataracts).
  • Neonatal-onset generalized lipodystrophy syndrome: Characterized by an overall loss of body fat except in the buttocks and on the palms of the hands and soles of the feet, thin skin with visible blood vessels, a large triangular head, and slow weight gain in childhood.

Other Names for This Gene

  • BSCL3
  • CAV
  • caveolin 1, caveolae protein, 22kDa
  • caveolin-1 isoform alpha
  • caveolin-1 isoform beta
  • cell growth-inhibiting protein 32
  • CGL3
  • LCCNS
  • MSTP085
  • PPH3
  • VIP21

Genomic Location

The CAV1 gene is found on chromosome 7.

Frequently Asked Questions

Patients with a CAV1 mutation often present with an unusually muscular appearance and a near absence of subcutaneous fat, especially in the trunk and limbs. They may also have high blood triglyceride levels, insulin resistance, or early onset type 2 diabetes. If you notice a combination of these features, especially from a young age, it is worth discussing genetic testing with your clinician. How is congenital generalized lipodystrophy due to a CAV1 mutation diagnosed?::Diagnosis typically involves a clinical assessment of fat distribution, laboratory tests showing hypertriglyceridemia and insulin resistance, and confirmatory genetic testing via sequencing of the CAV1 gene. Imaging such as MRI or CT can also help document the lack of adipose tissue. What treatment options are available for managing the metabolic complications of CAV1-related lipodystrophy?::Management focuses on controlling triglycerides and glucose levels. This may include high‑fat, low‑carbohydrate diets, omega‑3 fatty acids, fibrate or statin medications for hypertriglyceridemia, and insulin or insulin sensitizers for diabetes. Regular monitoring of liver function and lipid panels is essential. Can family members of someone with a CAV1 mutation be screened, and what does that entail?::Because CAV1 mutations can be inherited in an autosomal dominant pattern, first‑degree relatives can undergo targeted genetic testing. If a mutation is found, they should receive counseling on lifestyle modifications and periodic metabolic screening to catch complications early.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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