Ask about this productRelated genes to: DNAJB2 antibody
- Gene:
- DNAJB2 NIH gene
- Name:
- DnaJ heat shock protein family (Hsp40) member B2
- Previous symbol:
- HSJ1
- Synonyms:
- HSPF3, CMT2T
- Chromosome:
- 2q35
- Locus Type:
- gene with protein product
- Date approved:
- 1997-08-15
- Date modifiied:
- 2015-11-19
Related products to: DNAJB2 antibody
Related articles to: DNAJB2 antibody
- The DNAjB2 gene encodes a co-chaperone protein that interacts with the heat shock protein (HSP) family to maintain protein quality control and preserve neuronal integrity. Variants in this gene have been associated with the axonal form of Charcot-Marie-Tooth Disease (CMT2). Recent literature has also suggested an association between DNAjB2 variants and neurodegenerative disorders such as Parkinson's disease (PD). - Source: PubMed
Publication date: 2026/03/04
Lerint Alexandru NCanenguez Benitez Johanna SValaparla Vijaya LakshmiShanina ElenaWu Laura J - Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2- and HINT1-related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non-motor symptoms and quality of life (QoL) in affected individuals. - Source: PubMed
Bjelica BogdanHendrich Corinnavon Hardenberg SandraVukojevic MilicaKörner SonjaGschwendtberger ThomasHaghikia AidenPeric StojanPetri Susanne - The coexistence of parkinsonism and peripheral neuropathy (PN) is more frequent than traditionally assumed and impacts patients' quality of life. Despite this, PN is often overlooked or misattributed to non-motor symptoms of Parkinson's disease (PD), resulting in missed diagnoses in clinical practice. - Source: PubMed
Publication date: 2026/01/06
Moreno-Lopez CristinaAntenucci PietroMoura JoãoBhatia Kailash P
- Source: PubMed
- The J-domain proteins (JDPs), or HSP40s, are essential molecular co-chaperones that, in concert with HSP70, play a pivotal role in maintaining protein homeostasis, which is particularly critical in skeletal muscle. In recent years, pathogenic variants in several JDP-encoding genes have been identified as a cause of a growing group of inherited muscle diseases, termed JDP-related myopathies. This review provides a comprehensive overview of the current understanding of the molecular genetics, clinical phenotypes, muscle pathology, and pathomechanisms of myopathies caused by mutations in DNAJB6, DNAJB4, and DNAJB2. These disorders present with a wide spectrum of clinical features, including limb-girdle or distal weakness, and, in some cases, severe early-onset respiratory failure with axial rigidity. Pathologically, they are often characterized by rimmed vacuoles and sarcoplasmic protein inclusions. The underlying molecular mechanisms all involve disruption of the JDP-HSP70 chaperone system, but they are driven by distinct molecular events specific to each gene and mutation type. While loss-of-function is a primary mechanism for recessive forms of DNAJB4 and DNAJB2 myopathy, a toxic gain-of-function mediated by a dysregulated interaction with HSP70 is emerging as a central pathomechanism for dominant myopathies caused by DNAJB6 and DNAJB4 variants. A dominant-negative effect is proposed for dominant DNAJB2 neuromyopathy. This evolving mechanistic understanding is crucial as it informs the development of targeted therapeutic strategies, moving beyond supportive care. Potential future therapies include gene replacement for loss-of-function disorders, and for gain-of-function diseases, approaches including small molecule inhibitors of the JDP-HSP70 interaction or allele- and isoform-specific knockdown. - Source: PubMed
Publication date: 2025/07/22
Inoue Michio