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DNAJC19 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DNAJC19 gene

The DNAJC19 gene provides instructions for a protein located in the mitochondria, the energy-producing centers of the cell, where it assists in protein transport and assembly.

Normal Function

The DNAJC19 gene produces a protein found within mitochondria. While its exact function is still being researched, it is believed to assist in the transport of other proteins into and out of the mitochondria. It may also play a role in the proper assembly and disassembly of specific proteins within these organelles.

Health Conditions Related to Genetic Changes

Dilated cardiomyopathy with ataxia syndrome

Mutations in the DNAJC19 gene cause dilated cardiomyopathy with ataxia (DCMA) syndrome. This condition affects multiple body systems, including the heart and nervous system.

  • Impact on Mitochondria: A lack of functional DNAJC19 protein is thought to disrupt the transport of proteins into and out of the mitochondria.
  • Energy Production: Because mitochondria are responsible for energy production, this disruption reduces the cell's ability to generate energy.
  • Tissue Vulnerability: Tissues with high energy demands, such as the heart and brain, are most susceptible to this energy deficit, leading to the heart problems and movement difficulties characteristic of the syndrome.

Other Names for This Gene

  • DnaJ (Hsp40) homolog, subfamily C, member 19
  • homolog of yeast TIM14
  • mitochondrial import inner membrane translocase subunit TIM 14
  • PAM18
  • TIM14
  • TIM14_HUMAN
  • TIMM14
  • translocase of the inner mitochondrial membrane 14

Genomic Location

The DNAJC19 gene is found on chromosome 3.

Frequently Asked Questions

Diagnosis typically starts with an echocardiogram to document ventricular dilation and reduced function, followed by a neurological exam for ataxia. Definitive confirmation requires molecular testing—either a targeted DNAJC19 gene panel or whole‑exome sequencing—to identify pathogenic variants. Some labs also offer deletion/duplication analysis if a single‑variant test is negative.
Early clues often appear in the first two years of life and include poor feeding or growth failure, unexplained fatigue, and a rapid heartbeat. Neurologically, children may develop delayed motor milestones, unsteady gait, or frequent falls that suggest ataxia. If a child shows both heart‑related signs and balance problems, prompt cardiac imaging and genetic evaluation are warranted.
Management follows standard heart‑failure protocols: ACE inhibitors or ARBs, beta‑blockers, and diuretics to reduce workload on the heart. In severe cases, cardiac transplantation may be considered. Early initiation of these therapies has been shown to stabilize ventricular size and improve exercise tolerance, but they do not correct the underlying mitochondrial defect.
DNAJC19 follows an autosomal‑recessive inheritance pattern, so carriers (heterozygotes) are usually asymptomatic. However, rare reports describe mild cardiac or metabolic findings in carriers, especially under stress. Genetic counseling is recommended for family planning, and carrier testing can be offered to siblings and extended relatives.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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