GTR Home > Genes

DNAJC19 DnaJ heat shock protein family (Hsp40) member C19

Gene ID: 131118, updated on 5-Jan-2022
Gene type: protein coding
Also known as: PAM18; TIM14; TIMM14

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

DescriptionTests
3-methylglutaconic aciduria type V
MedGen: C1857776OMIM: 610198GeneReviews: Not available
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

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center