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

SFTPC gene

The SFTPC gene provides instructions for making surfactant protein-C, which is essential for lung function and preventing the collapse of air sacs during breathing.

Normal Function

The SFTPC gene provides instructions for making a protein called surfactant protein-C (SP-C). This protein is one of four proteins in surfactant, a mixture of phospholipids and proteins that lines the lung tissue. Surfactant lowers surface tension in the air sacs of the lungs (the alveoli), which prevents them from sticking together and collapsing after exhalation. By reducing this surface tension, the protein makes breathing easier and ensures oxygen is effectively delivered to the body. The SP-C protein specifically helps spread surfactant across the surface of the lung tissue.

Surfactant components are packaged in cellular structures called lamellar bodies within specialized lung cells. The surfactant proteins must undergo several processing steps to become functional, some of which occur within these lamellar bodies.

Health Conditions Related to Genetic Changes

Surfactant dysfunction

More than 35 mutations in the SFTPC gene have been identified in individuals with surfactant dysfunction. This condition can cause severe breathing problems in newborns or a more gradual onset of milder breathing issues in children and adults.

Mutations associated with this condition often affect the processing of the SP-C protein, particularly in a region of the gene called the BRICHOS domain. These mutations lead to a reduction or absence of mature SP-C and a buildup of abnormal forms of the protein. The resulting health issues may stem from two primary mechanisms:

  • Surfactant deficiency: A lack of mature SP-C leads to an abnormal surfactant composition and decreased function, raising surface tension and causing lung collapse.
  • Cellular damage: Abnormally processed SP-C proteins may form the wrong three-dimensional shape and accumulate inside lung cells. These misfolded proteins can trigger a cellular response that results in cell damage and death, further disrupting surfactant production.

Idiopathic pulmonary fibrosis

The SFTPC gene is also associated with idiopathic pulmonary fibrosis.

Genomic Location

The SFTPC gene is found on chromosome 8.

Frequently Asked Questions

Patients should seek urgent care if they experience sudden or rapidly worsening shortness of breath, especially during mild exertion or at rest. Other critical warning signs include persistent coughing, chest tightness, or a noticeable decrease in exercise tolerance that does not improve with rest. Because SFTPC-related lung disease can progress to pulmonary fibrosis, any new respiratory symptoms in a person with a known family history of lung disease require prompt evaluation by a pulmonologist.
Diagnosis usually begins with genetic testing, specifically a targeted gene panel or whole exome sequencing, to identify specific mutations in the SFTPC gene. Clinicians often combine this with high-resolution computed tomography (HRCT) scans of the chest to look for signs of interstitial lung disease or ground-glass opacities. In some cases, a lung biopsy may be performed to examine the lung tissue for characteristic protein buildup or cellular damage, although genetic confirmation is the gold standard for diagnosis.
In newborns, an SFTPC mutation often presents as severe respiratory distress syndrome shortly after birth, requiring immediate intensive care and mechanical ventilation. In contrast, adults with the same genetic variant may experience a much later onset of symptoms, such as progressive shortness of breath, chronic cough, or interstitial lung disease that develops gradually over years. This difference occurs because the lung's ability to compensate for reduced surfactant function declines with age and repeated stress on the air sacs.
Yes, SFTPC-related surfactant dysfunction is typically inherited in an autosomal dominant pattern. This means that a mutation in just one copy of the gene is sufficient to cause the condition. An affected parent has a 50 percent chance of passing the mutation to each child. However, the condition exhibits variable expressivity, meaning that even family members with the same mutation may have vastly different severities of symptoms, ranging from mild breathing difficulties to severe, life-threatening lung failure.
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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