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CLPB

Caseinolytic peptidase B protein homolog(CLPB), also known as mitochondrial AAA ATPase chaperonin, is an enzyme that in humans is encoded by the CLPB gene, which encodes an ATP-dependent protease and chaperone. CLPB is localized in mitochondria and widely expressed in human tissues. High expression in adult brain and low expression in granulocyte is found. It is a chaperone involved in disaggregating proteins and also has a role in de novo protein synthesis under mild stress conditions. Mutations in "CLPB" gene could cause autosomal recessive metabolic disorder with intellectual disability/developmental delay, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria.