Recombinant Human DNAJC30 protein(Ser39-Gly124), His-tagged

• Cat.No.: DNAJC30-512H
• Product Overview: Recombinant Human DNAJC30 (Q96LL9) (Ser39-Gly124) was expressed in E. coli with a polyhistide tag at the N-terminus.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Protein Length: Ser39-Gly124
• Form: Lyophilized from sterile PBS, pH7.4. Normally 5 % - 8 % trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization.
• Molecular Mass: The recombinant human DNAJC30 consists of 101 amino acids and predicts a molecular mass of 11.4 KDa. It migrates as an approximately 14 KDa band in SDS-PAGE under reducing conditions.
• Purity: > 95 % as determined by SDS-PAGE
• Storage: Samples are stable for up to twelve months from date of receipt at -20°C to -80°C. Store it under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
• Reconstitution: It is recommended that sterile water be added to the vial to prepare a stock solution of 0.2 ug/ul. Centrifuge the vial at 4°C before opening to recover the entire contents.

Gene Information

• Gene Name: DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30 [ Homo sapiens ]
• Official Symbol: DNAJC30
• Synonyms: DNAJC30; DnaJ (Hsp40) homolog, subfamily C, member 30; WBSCR18, Williams Beuren syndrome chromosome region 18; dnaJ homolog subfamily C member 30; Williams Beuren syndrome chromosome region 18; williams-Beuren syndrome chromosomal region 18 protein; WBSCR18; MGC12943
• Gene ID: 84277
• mRNA Refseq: NM_032317
• Protein Refseq: NP_115693
• UniProt ID: Q96LL9

Case Study

Case 1: Tebbenkamp ATN, et al. Cell. 2018

While copy-number variations (CNVs) drive neurodevelopmental disorders like Williams syndrome (WS), their mechanistic ties to neural phenotypes remain unclear. This study identifies mitochondrial dysfunction via 7q11.23-encoded DNAJC30, an ATP-synthase interactor, as central to WS pathogenesis. Dnajc30 deletion in mice caused mitochondrial hypofunction, impaired neuronal morphology, and WS-like behaviors, aligning with reduced oxidative phosphorylation supercomplex integrity in WS patients. These findings position DNAJC30 as an ATP-synthase auxiliary component, unveiling mitochondrial deficits as a key driver of brain abnormalities in WS.

Fig1. Macaque dorsolateral prefrontal cortex labeled using anti-DNAJC30 and silver-enhanced 1.4nm gold.

Fig2. Expression ratio (DNAJC30:TBP) in human fibroblasts.

Application

1. Recombinant DNAJC30 Protein: Advancing Therapies for Mitochondrial and Neurodevelopmental Disorders Recombinant DNAJC30 protein is gaining traction as a pivotal therapeutic agent for mitochondrial dysfunction, particularly in neurodevelopmental disorders like Williams syndrome (WS). Research underscores its role in stabilizing ATP-synthase complexes, critical for maintaining oxidative phosphorylation efficiency. In WS models, DNAJC30 deficiency disrupts mitochondrial energy production, leading to impaired neuronal development and behavioral deficits. Preclinical studies demonstrate that recombinant DNAJC30 supplementation restores ATP-synthase activity, improves mitochondrial integrity, and alleviates cognitive and morphological abnormalities, positioning it as a promising candidate for targeted therapies. 2. Biotechnological Innovations and Clinical Applications Advances in recombinant protein production, using mammalian or bacterial expression systems, have enabled scalable and high-purity DNAJC30 synthesis. This progress supports its application in mitochondrial disorder treatments, including neurodegenerative diseases like Alzheimer’s and Parkinson’s. Additionally, DNAJC30 is being integrated into gene therapy platforms and mitochondrial-targeted drug delivery systems to enhance treatment precision. Collaborative efforts between academic labs and biotech companies aim to optimize its pharmacokinetics and validate efficacy in human trials. 3. Future Directions in Mitochondrial Medicine Emerging research explores DNAJC30 as a biomarker for early diagnosis of mitochondrial pathologies and a tool for personalized medicine. CRISPR-Cas9-engineered cell models are refining mechanistic insights, while clinical trials assess its safety and therapeutic potential. With growing emphasis on mitochondrial health in aging and metabolic syndromes, recombinant DNAJC30 is poised to transform treatment paradigms for WS and related disorders, bridging gaps in precision medicine and energy metabolism therapeutics.

Fig1. Scheme of the DNAJC30 protein domains and location of the variants. (Sinja Kieninger, 2022)