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SLC20A2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC20A2 gene

The SLC20A2 gene provides instructions for making the PiT-2 protein, which regulates phosphate levels within cells, particularly in the brain.

Normal Function

The SLC20A2 gene provides instructions for making a protein called sodium-dependent phosphate transporter 2 (PiT-2). This protein is highly active in nerve cells (neurons) in the brain and plays a major role in regulating the levels of phosphate in cells (phosphate homeostasis). The PiT-2 protein uses positively charged sodium atoms (ions) to transport phosphate in and out of cell membranes. Phosphate is needed for metabolic processes, signaling between cells, and the production of DNA building blocks and fats.

Health Conditions Related to Genetic Changes

Primary familial brain calcification

More than 60 SLC20A2 gene mutations have been found to cause primary familial brain calcification. This condition is characterized by abnormal deposits of calcium (calcification) in the brain and movement and psychiatric problems.

  • Most mutations change single protein building blocks (amino acids) in the PiT-2 protein and severely impair its ability to transport phosphate into cells.
  • As a result, phosphate levels in the bloodstream rise. The excess phosphate combines with calcium and forms deposits within blood vessels in the brain.

Although the SLC20A2 gene is active throughout the body, its activity is highest in structures deep within the brain that help start and control movement (basal ganglia) and in other brain regions involved in primary familial brain calcification, which may explain why the effects of these mutations are limited to these regions.

Other Names for This Gene

  • gibbon ape leukemia virus receptor 2
  • GLVR-2
  • GLVR2
  • MLVAR
  • murine leukemia virus, amphotropic, receptor for
  • PIT-2
  • PIT2
  • S20A2_HUMAN
  • sodium-dependent phosphate transporter 2
  • solute carrier family 20 (phosphate transporter), member 2

Frequently Asked Questions

Patients often notice subtle movement issues such as tremor, stiffness, or difficulty with coordination, and some may experience mood changes or mild cognitive slowing. If these symptoms appear in a family with a history of neurological problems, a clinician may consider genetic testing for SLC20A2 mutations. How is primary familial brain calcification confirmed in the laboratory?::The diagnosis is made by combining a brain CT scan that shows characteristic calcium deposits in the basal ganglia or other deep brain structures with a DNA test that identifies pathogenic variants in the SLC20A2 gene. A negative CT but a positive genetic test can still support the diagnosis, especially in early stages. Can lifestyle changes reduce the risk of calcium buildup in the brain?::While the genetic defect cannot be reversed, maintaining normal blood phosphate and calcium levels may help. This includes staying hydrated, avoiding excessive dietary phosphate (e.g., processed foods, cola drinks), and ensuring adequate vitamin D and calcium intake under a clinician’s guidance. Regular monitoring of serum phosphate and calcium is recommended. What treatment options exist for managing symptoms of primary familial brain calcification?::Symptomatic therapy is the mainstay. For movement disorders, medications such as levodopa, dopamine agonists, or antispasmodics may be used. Psychiatric symptoms can be managed with antidepressants or antipsychotics as needed. In severe cases, deep brain stimulation has been explored, but evidence is limited. Genetic counseling is advised for family planning.
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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