Alt. symbols: HSP78 | SKD3 | FLJ13152 | ANKCLB

Approved name: ClpB family mitochondrial disaggregase
Alt. names: ClpB caseinolytic peptidase B homolog (E. coli), ClpB homolog, mitochondrial AAA ATPase chaperonin | suppressor of potassium transport defect 3, ankyrin-repeat containing bacterial clp fusion

Location: 11q13.4: 72285495 - 72434680 (-)
Gene type: protein_coding, 22 transcripts.

Scores: LoFtool: 0.804000 | pLI: 0.00000913 | LOEUF: 0.536

HGNC: 30664

NCBI: 81570, RefSeq: NG_042130.2

Ensembl: ENSG00000162129.15

LRG_1338 | Status: public

OMIM: 616254

Expression | ProteinAtlas

The CLPB gene encodes a protein that is crucial for maintaining mitochondrial function in humans. Mitochondria are the powerhouses of the cell, responsible for generating energy in the form of ATP. The CLPB protein, belonging to the AAA+ (ATPases associated with diverse cellular activities) family, assists in the proper folding and assembly of proteins within the mitochondria to ensure their functionality. It also helps in the quality control of mitochondrial proteins, ensuring that damaged or misfolded proteins are either refolded or targeted for degradation, thus contributing to the overall health, integrity and efficiency of the mitochondria.

Mutations in the CLPB gene can lead to mitochondrial dysfunction. Both monoallelic and biallelic mutations in this gene have been associated with both autosomal dominant (AD) and recessive forms (AR) of 3-methylglutaconic aciduria type VII, respectively known as MGCA7 (MIM#619835) and MGCA7B (MIM#616271). These conditions are associated with variable neurologic deficits and neutropenia. The phenotype is highly variable: most patients have infantile onset of a severe progressive encephalopathy wi th various movement abnormalities and delayed psychomotor development. Other common variable features include seizures, recurrent infections due to neutropenia, anemia, and brain imaging abnormalities. However some mutations have been reported to cause an immune predominant phenotype, mainly characterized by congenital neutropenia and recurrent infections (SCN9, MIM#619813), neurologic manifestations may occur but are rare. [Load More]