CLPB gene

ClpB homolog, mitochondrial AAA ATPase chaperonin

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.

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.

Cytogenetic Location: 11q13.4, which is the long (q) arm of chromosome 11 at position 13.4

Molecular Location: base pairs 72,292,425 to 72,434,684 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.4, which is the long (q) arm of chromosome 11 at position 13.4
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