DNAJC19
DNAJC19 is a protein that in humans is encoded by the DNAJC19 gene. This gene is located on the chromosome 3 and is known to be involved in the mitochondrial protein import and cardiomyopathy.
Function[edit | edit source]
The DNAJC19 protein is a member of the DnaJ heat shock protein family. These proteins are characterized by a highly conserved amino acid sequence, which includes a J-domain. The J-domain is responsible for the interaction with Hsp70 proteins, which are crucial for protein folding, assembly, translocation, and degradation.
DNAJC19 is localized in the mitochondria, where it is involved in the import of proteins into the inner mitochondrial membrane. It is also associated with the TIM23 complex, which is responsible for the translocation of proteins across the mitochondrial inner membrane.
Clinical significance[edit | edit source]
Mutations in the DNAJC19 gene have been associated with Dilated cardiomyopathy with ataxia (DCMA), a rare disorder characterized by early onset dilated cardiomyopathy, ataxia, and elevated 3-methylglutaconic acid levels.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
DNAJC19 Resources | ||
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Contributors: Prab R. Tumpati, MD