CLPB, Official Symbol CLPBprovided by HGNC Official Full Name ClpB family mitochondrial disaggregaseprovided by HGNC Primary source HGNC:HGNC:30664 See related Ensembl:ENSG00000162129 MIM:616254; AllianceGenome:HGNC:30664 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCN9; SKD3; HSP78; MGCA7; ANKCLB; ANKCLP; MGCA7A; MEGCANN Summary This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Biased expression in testis (RPKM 59.2), brain (RPKM 5.3) and 5 other tissues See more Orthologs mouse all