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EFEMP2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EFEMP2 gene

The EFEMP2 gene provides instructions for making fibulin-4, a protein essential for the assembly of elastic fibers that provide strength and flexibility to connective tissues.

Normal Function

The EFEMP2 gene provides instructions for making a protein called EGF-containing fibulin-like extracellular matrix protein 2, which is also known as fibulin-4. This protein is part of a group of proteins called fibulins. Fibulins have a variety of functions in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.

Little is known about the function of fibulin-4 in the extracellular matrix. It appears to play a critical role in the assembly of elastic fibers, which are slender bundles of protein that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). Fibulin-4 is found in tissues and organs that are rich in elastic fibers, including the blood vessels, heart valves, lungs, and skin.

Health Conditions Related to Genetic Changes

Cutis laxa

At least six variants (also known as mutations) in the EFEMP2 gene have been identified in people with cutis laxa. EFEMP2 variants cause a form of the disorder called autosomal recessive cutis laxa type 1B (ARCL1B), which is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels.

Variants in the EFEMP2 gene likely prevent cells from producing any functional fibulin-4. Without this protein, elastic fibers cannot be assembled normally in the extracellular matrix. A shortage of normal elastic fibers weakens connective tissue in the skin, blood vessels, lungs, and other organs. These defects in connective tissue underlie the major features of cutis laxa.

Other Names for This Gene

  • EGF containing fibulin extracellular matrix protein 2
  • EGF containing fibulin like extracellular matrix protein 2
  • EGF containing fibulin-like extracellular matrix protein 2
  • EGF-containing fibulin-like extracellular matrix protein 2
  • FBLN4
  • fibulin 4
  • fibulin-like extracellular matrix protein
  • MBP1
  • mutant p53 binding protein 1
  • UPH1

Frequently Asked Questions

RCL1B is inherited in an autosomal recessive pattern, meaning a child must receive a pathogenic EFEMP2 variant from both parents. If both parents are carriers, each pregnancy has a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier.
Patients should seek immediate medical attention if they develop sudden chest pain, shortness of breath at rest, rapid heart rate, fainting, or notice swelling of the legs or abdomen, as these can signal aortic aneurysm, dissection, or severe valve disease that require rapid imaging and possible surgical intervention.
rrange a consultation with a medical geneticist or genetic counselor, provide a detailed family history, and obtain a blood sample (or saliva if offered). Bring any prior imaging or clinical reports related to skin, lung, or heart findings, and discuss insurance coverage or potential out‑of‑pocket costs before testing.
Management is multidisciplinary: dermatology may use moisturizers and, in severe cases, surgical skin tightening; pulmonology monitors for emphysema and may prescribe bronchodilators or supplemental oxygen; cardiology follows a regular imaging schedule (echocardiogram, MRI) and may intervene surgically for aneurysms or valve defects. Avoid smoking, maintain a heart‑healthy diet, and engage in low‑impact exercise to preserve lung function without over‑stress on connective tissue.
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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