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

CLPB gene

The CLPB gene provides instructions for a protein that is most abundant in the brain and is thought to assist in the refolding of misfolded proteins.

Normal Function

The CLPB gene provides instructions for making a protein whose function is unknown. The CLPB protein is found in cells throughout the body but is most abundant in the brain. Based on its similarity to a protein in other organisms, researchers speculate that the CLPB protein helps unfold misfolded proteins so they can be refolded correctly. When misfolded, proteins cannot function properly and may be damaging to cells.

Health Conditions Related to Genetic Changes

CLPB deficiency

At least 20 CLPB gene mutations have been found to cause CLPB deficiency. This condition is characterized by neurological problems, including movement abnormalities and seizures; a shortage of white blood cells (neutropenia), which can increase the risk of infections; and clouding of the lenses of the eyes (cataracts). In addition, affected individuals have an increased amount of a molecule called 3-methylglutaconic acid in their urine, which does not appear to cause health problems.

The severity of these features varies widely. Many of the CLPB gene mutations lead to an abnormally short CLPB protein that is likely broken down quickly. Other mutations may reduce CLPB's function. The severity of the condition is thought to be related to the amount of functional protein remaining: severe CLPB deficiency is likely caused by a complete absence of CLPB protein, while moderate and mild CLPB deficiency result when some functional CLPB protein is produced. Researchers are unsure how reduction or absence of this protein leads to the signs and symptoms of CLPB deficiency.

Other Names for This Gene

  • ANKCLB
  • ankyrin-repeat containing bacterial clp fusion
  • caseinolytic peptidase B protein homolog isoform 1
  • caseinolytic peptidase B protein homolog isoform 2
  • caseinolytic peptidase B protein homolog isoform 3
  • caseinolytic peptidase B protein homolog isoform 4
  • ClpB caseinolytic peptidase B homolog
  • FLJ13152
  • HSP78
  • SKD3
  • suppressor of potassium transport defect 3
  • testicular secretory protein Li 11

Frequently Asked Questions

Infants with CLPB deficiency often present with developmental delays, hypotonia (low muscle tone), and feeding difficulties within the first few months of life. Seizure activity may appear between 6 and 12 months, and some children develop cataracts or mild neutropenia early on. Early neuroimaging may reveal white matter changes, but these findings are not specific. Monitoring developmental milestones and routine blood counts can help catch early signs.
Seizure control typically follows standard antiepileptic protocols, but clinicians often use a combination of levetiracetam and valproate, monitoring for side effects. For neutropenia, regular complete blood counts are essential; granulocyte colony‑stimulating factor (G‑CSF) can be administered during febrile episodes or before invasive procedures to reduce infection risk. Cataract surgery may be considered if vision is impaired, and supportive therapies (physical, occupational, speech) are crucial for developmental progress.
Diagnosis begins with a clinical assessment of neurological symptoms and blood counts. A key laboratory marker is an elevated urinary 3‑methylglutaconic acid level, which is measured by gas chromatography–mass spectrometry. Definitive diagnosis requires sequencing of the CLPB gene to identify pathogenic variants; a copy number analysis may also be performed if a deletion is suspected. Functional studies, such as measuring protein levels in fibroblasts, can help determine the severity of the mutation.
Research is ongoing in animal models to explore CRISPR‑mediated gene editing and viral vector‑mediated gene replacement. Early‑phase studies are still preclinical, and no approved gene therapy exists yet. Patients should be monitored for clinical trials and consider enrolling in registries that track emerging treatments. However, current care focuses on symptom management and supportive therapies.
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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