CLPB Antibody, HRP conjugated

1. The neonatal presentation of CLPB deficiency predicts the course of disease in later life, which is extremely important for counselling. PMID: 28687938
2. Case Reports: bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. PMID: 25595726
3. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria PMID: 25650066
4. ClpB can passively thread soluble denatured proteins. PMID: 25288401
5. Mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria. PMID: 25597510
6. CLPB is proposed to function as a mitochondrial chaperone involved in disaggregation of misfolded proteins, resulting from stress such as heat denaturation. PMID: 25597511
7. ClpB-DnaK reactivated all aggregated fusion proteins with similar efficiency, without unfolding native domains, demonstrating that partial threading of the misfolded moiety is sufficient to solubilize aggregates. PMID: 18488042
8. formation of the DnaK-ClpB bichaperone network is a three step process PMID: 19698713

Show More

Hide All

HGNC: 30664

OMIM: 616254

KEGG: hsa:81570

STRING: 9606.ENSP00000294053

UniGene: Hs.523877