DNAJB2 Human

The DNAJB2 gene is located on chromosome 2q35 and contains 10 exons . It encodes two main transcripts, isoform a and isoform b, which differ in their C-terminal sequences . Isoform a is encoded by exons 2-10, while isoform b is encoded by exons 2-9 . The protein encoded by this gene is characterized by a highly conserved amino acid stretch known as the ‘J-domain’, which is essential for its function as a molecular chaperone .

DNAJB2 functions as a molecular chaperone by stimulating the ATPase activity of Hsp70 heat-shock proteins . This stimulation is crucial for promoting protein folding and preventing the aggregation of misfolded proteins . The protein also plays a role in the assembly and disassembly of protein complexes, renaturation of denatured proteins, and protein export .

DNAJB2 is predominantly expressed in the brain, with the highest levels found in the frontal cortex and hippocampus . Western blot analysis has detected proteins with apparent molecular masses of approximately 42 and 36 kD in human brain homogenates . In situ hybridization of human brain sections has shown that DNAJB2 mRNA is mainly localized in the neuronal layers .

Mutations in the DNAJB2 gene have been associated with several neurodegenerative diseases. For instance, DNAJB2 has been implicated in distal hereditary motor neuronopathy and Charcot-Marie-Tooth disease, axonal type 2T . The protein’s role in protecting neurons from polyglutamine-huntingtin-induced cell death highlights its potential as a therapeutic target for neurodegenerative disorders .

Recombinant DNAJB2 is used in various research applications to study its function and mechanism in protein folding and neuroprotection. Understanding the role of DNAJB2 in cellular processes and disease mechanisms can provide insights into developing therapeutic strategies for neurodegenerative diseases.