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CAVIN1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CAVIN1 gene

The CAVIN1 gene provides instructions for the cavin-1 protein, which is essential for forming caveolae and maintaining healthy adipose and muscle tissue.

Normal Function

The CAVIN1 gene provides instructions for making a protein called cavin-1. This protein is most abundant in osteoblasts (bone-building cells), muscle cells, and adipocytes (fat-storing cells).

Studies suggest that cavin-1 plays an essential role in forming and stabilizing caveolae, which are small pouches in the membrane that surrounds cells. Caveolae are involved in the transport of molecules from the cell membrane to the interior of the cell (endocytosis), processing of molecules, maintaining cell structure, and regulating chemical signaling pathways. In adipocytes, they are essential for the normal transport, processing, and storage of fats.

Within cells, cavin-1 is also found in the nucleus and the cytoplasm. It is involved in repairing damage to the outer cell membrane, cell growth and division (proliferation), cell movement, stopping cell division in older cells (senescence), and regulating chemical signaling pathways.

Health Conditions Related to Genetic Changes

Congenital generalized lipodystrophy

More than 10 mutations in the CAVIN1 gene have been found to cause congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) type 4. 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.

Additional features of congenital generalized lipodystrophy type 4 include:

  • Muscle weakness
  • Delayed development
  • Joint abnormalities
  • Narrowing of the lower part of the stomach (pyloric stenosis)
  • Severe abnormalities of the heart rhythm (arrhythmias) that can lead to sudden death

All identified CAVIN1 gene mutations prevent cells from producing any functional cavin-1, which likely impairs the formation of caveolae and disrupts many cell functions.

Other Names for This Gene

  • CAVIN
  • cavin-1
  • CGL4
  • FKSG13
  • polymerase I and transcript release factor
  • PTRF
  • RNA polymerase I and transcript release factor
  • TTF-I interacting peptide 12

Genomic Location

The CAVIN1 gene is found on chromosome 17.

Frequently Asked Questions

Congenital generalized lipodystrophy type 4 is typically inherited in an autosomal recessive pattern. This means that an individual must inherit two mutated copies of the CAVIN1 gene, one from each parent, to develop the condition. Parents who carry one copy of the mutation are usually asymptomatic carriers.
While many forms of lipodystrophy involve a loss of fat tissue, type 4 specifically presents with an almost total absence of adipose tissue from birth, leading to a very muscular appearance. Unlike some other types where muscle mass may be normal or reduced, individuals with CAVIN1-related lipodystrophy often have significant muscle hypertrophy, which can be a distinguishing clinical feature during physical examination.
The inability to store fat in adipose tissue forces the body to deposit fats in other organs, leading to severe hypertriglyceridemia (high levels of triglycerides in the blood). This metabolic disruption frequently results in early-onset diabetes mellitus and can cause fatty infiltration of the liver and pancreas, increasing the risk of pancreatitis and liver disease.
Yes, patients are at risk for severe cardiac arrhythmias, which require regular monitoring through electrocardiograms and potentially echocardiograms. Additionally, pyloric stenosis, a narrowing of the lower part of the stomach, is a known feature that can cause feeding difficulties in infants and may require surgical intervention if it significantly impairs nutrition.
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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