DNAJC19 Human

DnaJ (Hsp40) Homolog, Subfamily C, Member 19, also known as DNAJC19, is a protein encoded by the DNAJC19 gene in humans. This protein is a member of the DnaJ heat shock protein family (Hsp40), which plays a crucial role in the cellular response to stress by acting as molecular chaperones. These chaperones assist in the proper folding of proteins, prevention of protein aggregation, and the refolding of misfolded proteins.

The DNAJC19 gene is located on chromosome 3 and is a protein-coding gene. The protein encoded by this gene is involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix . The DNAJC19 protein is also known by several aliases, including TIM14, Mitochondrial Import Inner Membrane Translocase Subunit TIM14, and Pam18 .

DNAJC19 functions as a mitochondrial co-chaperone, forming a complex with prohibitins to regulate cardiolipin remodeling . Cardiolipin is a unique phospholipid that is essential for the optimal function of several mitochondrial enzymes. The DNAJC19 protein may also be a component of the PAM complex, which is required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner .

Mutations or defects in the DNAJC19 gene are associated with a rare metabolic disorder known as 3-methylglutaconic aciduria type 5 (MGA5), also referred to as dilated cardiomyopathy with ataxia (DCMA) . This disorder is characterized by a combination of symptoms, including dilated cardiomyopathy, ataxia, and elevated levels of 3-methylglutaconic acid in the urine. The condition is inherited in an autosomal recessive manner.

Recombinant DNAJC19 protein is used in various research applications to study its function and role in mitochondrial biology. Understanding the mechanisms by which DNAJC19 operates can provide insights into the development of therapeutic strategies for conditions associated with mitochondrial dysfunction.