Identity
HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
ANKCLB,HSP78,MEGCANN,MGCA7,SKD3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 81570
MIM: 616254
HGNC: 30664
Ensembl: ENSG00000162129
Variants:
dbSNP: 81570
ClinVar: 81570
TCGA: ENSG00000162129
COSMIC: CLPB
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Longevity regulating pathway - multiple species | KEGG | ko04213 |
| Longevity regulating pathway - multiple species | KEGG | hsa04213 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38270563 | 2024 | CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex. | 0 |
| 38270563 | 2024 | CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex. | 0 |
| 36745679 | 2023 | Comprehensive structural characterization of the human AAA+ disaggregase CLPB in the apo- and substrate-bound states reveals a unique mode of action driven by oligomerization. | 3 |
| 36745679 | 2023 | Comprehensive structural characterization of the human AAA+ disaggregase CLPB in the apo- and substrate-bound states reveals a unique mode of action driven by oligomerization. | 3 |
| 34115842 | 2022 | Heterozygous variants of CLPB are a cause of severe congenital neutropenia. | 16 |
| 36074910 | 2022 | Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. | 6 |
| 34115842 | 2022 | Heterozygous variants of CLPB are a cause of severe congenital neutropenia. | 16 |
| 36074910 | 2022 | Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. | 6 |
| 34140661 | 2021 | Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. | 14 |
| 34140661 | 2021 | Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. | 14 |
| 31917998 | 2020 | CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease. | 9 |
| 32573439 | 2020 | Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations. | 34 |
| 32866687 | 2020 | Human CLPB forms ATP-dependent complexes in the mitochondrial intermembrane space. | 9 |
| 31917998 | 2020 | CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease. | 9 |
| 32573439 | 2020 | Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations. | 34 |
Citation
Dessen P
CLPB (caseinolytic mitochondrial matrix peptidase chaperone subunit B)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56169/clpb-(caseinolytic-mitochondrial-matrix-peptidase-chaperone-subunit-b)
