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
Species: human
Products:     DNAJC19

Top Publications

  1. Mokranjac D, Sichting M, Neupert W, Hell K. Tim14, a novel key component of the import motor of the TIM23 protein translocase of mitochondria. EMBO J. 2003;22:4945-56 pubmed
    The TIM23 translocase mediates the deltaPsi- and ATP-dependent import of proteins into mitochondria. We identified Tim14 as a novel component of the TIM23 translocase...
  2. Davey K, Parboosingh J, McLeod D, Chan A, Casey R, Ferreira P, et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006;43:385-93 pubmed
    ..2 Mb region of chromosome 3q26.33 was found. A disease associated mutation was identified: IVS3-1 G-->C in the DNAJC19 gene, encoding a DNAJ domain containing protein of previously unknown function (Entrez Gene ID 131118)...
  3. Elsner S, Simian D, Iosefson O, Marom M, Azem A. The mitochondrial protein translocation motor: structural conservation between the human and yeast Tim14/Pam18-Tim16/Pam16 co-chaperones. Int J Mol Sci. 2009;10:2041-53 pubmed publisher
    ..Of particular interest for us is the human Tim14/Pam18-Tim16/Pam16 complex...
  4. Sinha D, Joshi N, Chittoor B, Samji P, D Silva P. Role of Magmas in protein transport and human mitochondria biogenesis. Hum Mol Genet. 2010;19:1248-62 pubmed publisher
    ..Magmas forms a stable subcomplex with J-protein Pam18 or DnaJC19 through its C-terminal region and is tethered to TIM23 complex of yeast and humans...
  5. Wortmann S, Kluijtmans L, Sequeira S, Wevers R, Morava E. Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. JIMD Rep. 2014;16:1-6 pubmed publisher
    ..acidurias" (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome, OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect, "not otherwise specified (NOS) 3-MGA-uria"), the origin of 3-..
  6. Vasilescu C, Ojala T, Brilhante V, Ojanen S, Hinterding H, Palin E, et al. Genetic Basis of Severe Childhood-Onset Cardiomyopathies. J Am Coll Cardiol. 2018;72:2324-2338 pubmed publisher
    ..The disease genes converge on metabolic causes (PRKAG2, MRPL44, AARS2, HADHB, DNAJC19, PPA2, TAZ, BAG3), MAPK pathways (HRAS, PTPN11, RAF1, TAB2), development (NEK8 and TBX20), calcium signaling (..
  7. Wortmann S, Kluijtmans L, Rodenburg R, Sass J, Nouws J, van Kaauwen E, et al. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis. 2013;36:913-21 pubmed publisher
    ..Besides, it was a consistent feature of patients with mutations in TAZ, SERAC1, OPA3, DNAJC19 and TMEM70 accounting for mitochondrial membrane related pathology...
  8. Wortmann S, Duran M, Anikster Y, Barth P, Sperl W, Zschocke J, et al. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013;36:923-8 pubmed publisher
    ..defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect)...
  9. Ucar S, Mayr J, Feichtinger R, Canda E, Coker M, Wortmann S. Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?. JIMD Rep. 2017;35:39-45 pubmed publisher
    ..ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19...

More Information


  1. 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 publisher
    We report a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome (DCMA).
  2. 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...
  3. 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 ..
  4. 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.
  5. 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. ..
  6. 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...
  7. 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. ..
  8. 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...