Genomes and Genes
Gene Symbol: DNAJC19
Description: DnaJ heat shock protein family (Hsp40) member C19
Alias: PAM18, TIM14, TIMM14, mitochondrial import inner membrane translocase subunit TIM14, DnaJ (Hsp40) homolog, subfamily C, member 19, DnaJ-like protein subfamily C member 19, homolog of yeast TIM14
- Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, et al. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012;72:432-7 pubmed publisherWe report a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome (DCMA).
- Richter Dennerlein R, Korwitz A, Haag M, Tatsuta T, Dargazanli S, Baker M, et al. DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling. Cell Metab. 2014;20:158-71 pubmed publisher..Here, we have defined the interactome of PHB2 in mitochondria and identified DNAJC19, mutated in dilated cardiomyopathy with ataxia, as binding partner of PHB complexes...
- Al Teneiji A, Siriwardena K, George K, Mital S, Mercimek Mahmutoglu S. Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. Pediatr Neurol. 2016;62:58-61 pubmed publisher..cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19. We present a new patient with a novel pathogenic variant in DNAJC19 with novel neuroimaging finding of ..
- Zeharia A, Friedman J, Tobar A, Saada A, Konen O, Fellig Y, et al. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. Eur J Hum Genet. 2016;24:1778-1782 pubmed publisher..3-Methylglutaconic aciduria is associated with variants in genes encoding mitochondrial inner membrane organizing determinants, including TAZ, DNAJC19, SERAC1 and QIL1/MIC13.
- Goswami A, Samaddar M, Sinha D, Purushotham J, D Silva P. Enhanced J-protein interaction and compromised protein stability of mtHsp70 variants lead to mitochondrial dysfunction in Parkinson's disease. Hum Mol Genet. 2012;21:3317-32 pubmed publisher..Taken together, our findings provide evidence in favor of direct involvement of mtHsp70 as a susceptibility factor in PD. ..
- Sinha D, Srivastava S, D Silva P. Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase. J Biol Chem. 2016;291:17345-59 pubmed publisher..In contrast to yeast, which has a single J-protein Pam18, humans involve two J-proteins, DnaJC15 and DnaJC19, associated with contrasting cellular phenotype, to transport proteins into the mitochondria...
- Taylor S, Fahy E, Zhang B, Glenn G, Warnock D, Wiley S, et al. Characterization of the human heart mitochondrial proteome. Nat Biotechnol. 2003;21:281-6 pubmed..The biochemical roles of 19% of the identified proteins have not been defined. This database of proteins provides a comprehensive resource for the discovery of novel mitochondrial functions and pathways. ..
- Sparkes R, Patton D, Bernier F. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young. 2007;17:215-7 pubmed..It is caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins...