DNAJC19 DnaJ heat shock protein family (Hsp40) member C19
Gene ID: 131118, updated on 3-Nov-2024Gene type: protein coding
Also known as: PAM18; TIM14; TIMM14
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAJC19
- Go to Variation Viewer for DNAJC19 variants
Summary
The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 3-methylglutaconic aciduria type 5 | See labs |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available |
Genomic context
- Location:
- 3q26.33
- Sequence:
- Chromosome: 3; NC_000003.12 (180983709..180989838, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAJC19 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DNAJC19 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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