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Gene : CLPB Homo sapiens

Name  ? caseinolytic mitochondrial matrix peptidase chaperone subunit B Cytological Location  11q13.4
Brief Description  caseinolytic mitochondrial matrix peptidase chaperone subunit B
Description  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]
  • synonyms:
  • OTTHUMG00000167902,
  • HGNC:30664,
  • ANKCLB,
  • ANKCLB,
  • HSP78,
  • ClpB caseinolytic peptidase B homolog (E. coli),
  • uc001osj.5,
  • SKD3,
  • SKD3,
  • suppressor of potassium transport defect 3,
  • MEGCANN,
  • HSP78,
  • BC006404,
  • ankyrin-repeat containing bacterial clp fusion,
  • FLJ13152,
  • CLPB,
  • MGCA7,
  • NM_030813,
  • ClpB homolog, mitochondrial AAA ATPase chaperonin
  • identifiers:
  • 81570,
  • ENSG00000162129,
  • CLPB

Genome feature

Region: gene ? Length: 149190  
Location: 11:72285495-72434684 reverse strand Cyto location: 11q13.4


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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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0 Pathways

860 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results