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SLC34A2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC34A2 gene

The SLC34A2 gene encodes a protein that regulates phosphate levels in the lungs, and mutations in this gene are associated with the development of pulmonary alveolar microlithiasis.

Normal Function

The SLC34A2 gene provides instructions for making a protein called the type IIb sodium-phosphate cotransporter. While found in several tissues, it is located mainly in the alveolar type II cells of the lungs. These cells produce and recycle surfactant, a mixture of phosphate-containing fats (phospholipids) and proteins that lines the lung tissue to facilitate breathing. The recycling of surfactant releases phosphate into the air sacs (alveoli), and the type IIb sodium-phosphate cotransporter helps clear this phosphate.

Health Conditions Related to Genetic Changes

Pulmonary alveolar microlithiasis

At least 18 SLC34A2 gene mutations have been identified in people with pulmonary alveolar microlithiasis. This disorder is characterized by the accumulation of tiny fragments of calcium phosphate, known as microliths, within the alveoli.

Mutations in the SLC34A2 gene impair the activity of the type IIb sodium-phosphate cotransporter. This leads to an accumulation of phosphate in the alveoli, which then forms the microliths. Over time, these deposits cause widespread lung damage, known as interstitial lung disease, which leads to significant breathing problems.

Frequently Asked Questions

PAM is often detected incidentally on chest X-rays or CT scans performed for unrelated reasons, as many patients are asymptomatic for decades. The hallmark radiological finding is a "sandstorm" appearance, representing the accumulation of tiny calcium phosphate microliths in the lung alveoli. Because the disease progresses slowly, patients may not experience significant breathing difficulties until the lung tissue becomes severely scarred and stiff, which can take many years to develop.
Pulmonary alveolar microlithiasis is an autosomal recessive disorder, meaning an individual must inherit two mutated copies of the SLC34A2 gene, one from each parent, to develop the disease. Parents are usually healthy carriers. Genetic testing can confirm the diagnosis and identify carrier status in at-risk family members. It is important to note that being a carrier does not mean a person will develop lung disease, but it is crucial for genetic counseling if the family plans to have children.
Patients with PAM should avoid smoking and exposure to lung irritants such as dust, fumes, and pollutants, as these can exacerbate lung inflammation and accelerate damage. Regular monitoring with pulmonary function tests and imaging is essential to track the progression of the disease. Maintaining good general health, including vaccination against respiratory infections like influenza and pneumonia, is critical to prevent secondary infections that could further compromise already compromised lung capacity.
Currently, there is no specific medical treatment to dissolve the microliths or reverse the established lung damage. Management is primarily supportive, focusing on maintaining oxygen levels and lung function. In severe cases where respiratory failure occurs, a lung transplant may be considered as the only option to extend life, though it carries significant risks and requires lifelong immunosuppression. Research into targeted therapies is ongoing, but no standard pharmacological cure exists at this time.
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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