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CLPB gene

ClpB family mitochondrial disaggregase

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.

More About This Health Condition

Other Names for This Gene

  • 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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases


  • Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Epub 2015 Feb 3. Citation on PubMed
  • Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S, Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Epub 2015 Jan 18. Citation on PubMed
  • Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15. Citation on PubMed or Free article on PubMed Central
  • Sharma SK, Christen P, Goloubinoff P. Disaggregating chaperones: an unfolding story. Curr Protein Pept Sci. 2009 Oct;10(5):432-46. doi: 10.2174/138920309789351930. Citation on PubMed
  • Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Citation on PubMed or Free article on PubMed Central

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.