Gene: CLPB
Alternate names for this Gene: ANKCLB|HSP78|MEGCANN|MGCA7|SKD3
Gene 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.
Gene is located in Chromosome: 11
Location in Chromosome : 11q13.4
Description of this Gene: caseinolytic mitochondrial matrix peptidase chaperone subunit B
Type of Gene: protein-coding
rs144078282 in
CLPB gene and
3-methylglutaconic aciduria type 7
PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID 25597510 2015 CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
PMID 28687938 2017 A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.
PMID 25597511 2015 CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
PMID 25595726 2015 Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
PMID 26916670 2016 Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.
PMID 25650066 2015 Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
rs12416741 in
CLPB gene and
Adolescent idiopathic scoliosis
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs113841147 in
CLPB gene and
Body Height
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
rs504217 in
CLPB gene and
Diastolic blood pressure
PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
rs1555087619 in
CLPB gene and
Multiple congenital anomalies
PMID 25597510 2015 CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
PMID 25597511 2015 CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
PMID 25650066 2015 Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
PMID 25595726 2015 Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
rs12416741 in
CLPB gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.