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SCARB2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SCARB2 gene

The SCARB2 gene provides instructions for the LIMP-2 protein, which is essential for lysosomal function and the transport of specific enzymes.

Normal Function

The SCARB2 gene provides instructions for making lysosomal integral membrane protein-2 (LIMP-2). This protein is primarily found in the membrane of lysosomes, which are cellular compartments that digest and recycle materials.

LIMP-2 is responsible for transporting the enzyme beta-glucocerebrosidase to the lysosome, where it breaks down a fatty substance called glucocerebroside. LIMP-2 also contributes to the stability of the lysosomal membrane. Outside the lysosome, the protein is found in the heart's intercalated discs and can serve as an entry point for certain viruses, such as enterovirus 71 and specific strains of coxsackievirus, which cause hand, foot, and mouth disease.

Health Conditions Related to Genetic Changes

Action myoclonus–renal failure syndrome

Mutations in the SCARB2 gene are associated with action myoclonus–renal failure (AMRF) syndrome. This condition is characterized by involuntary muscle jerking or twitching during intentional movement (action myoclonus) and, in many cases, kidney (renal) disease.

These mutations lead to the production of an altered LIMP-2 protein that becomes trapped in the endoplasmic reticulum and fails to reach the lysosome. This prevents the proper transport of beta-glucocerebrosidase, leading to a shortage of the enzyme within lysosomes, which is believed to contribute to the syndrome's symptoms.

Other Names for This Gene

  • 85 kDa lysosomal membrane sialoglycoprotein
  • 85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2
  • AMRF
  • CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)
  • CD36 antigen-like 2
  • CD36L2
  • EPM4
  • HLGP85
  • LGP85
  • LIMP II
  • LIMP-2
  • LIMPII
  • lysosome membrane protein 2 isoform 1 precursor
  • lysosome membrane protein 2 isoform 2 precursor
  • lysosome membrane protein II
  • scavenger receptor class B, member 2
  • SR-BII

Frequently Asked Questions

Myoclonus can be managed with antiepileptic drugs such as clonazepam or levetiracetam, and physical therapy helps improve motor control. For kidney disease, standard nephrology care—including blood pressure control, ACE inhibitors, and, if necessary, dialysis—is indicated. Currently, no disease‑modifying therapy targets the underlying lysosomal defect, but ongoing research into enzyme replacement or gene therapy may offer future options.
Because LIMP‑2 serves as a receptor for certain enteroviruses, patients should practice good hand hygiene, avoid close contact with individuals exhibiting hand, foot, and mouth disease, and ensure timely vaccination against common viral illnesses. Prompt medical attention for fever or rash can help prevent complications. Regular monitoring for signs of viral infection and early antiviral treatment when indicated may reduce disease severity.===
Patients typically experience action‑induced myoclonus—brief, involuntary muscle jerks that occur during purposeful movement—often beginning in childhood or adolescence. Renal involvement ranges from mild proteinuria to progressive renal failure requiring dialysis or transplantation. Neurological exams may also reveal ataxia, mild cognitive impairment, or seizures in some cases.
Diagnosis involves a combination of clinical assessment, genetic testing for SCARB2 variants (via targeted sequencing or whole‑exome sequencing), and biochemical studies showing reduced lysosomal beta‑glucocerebrosidase activity. Renal imaging (ultrasound or MRI) and kidney function tests (creatinine, eGFR, urinalysis) are essential, as is a brain MRI to evaluate structural changes associated with myoclonus.
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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