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SLC25A19 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC25A19 gene

The SLC25A19 gene is responsible for producing a protein that transports thiamine pyrophosphate into mitochondria, a process vital for brain development.

Normal Function

The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. Thiamine pyrophosphate is involved in the functioning of a group of mitochondrial enzymes called the alpha-ketoglutarate dehydrogenase complex. This complex acts on a compound called alpha-ketoglutaric acid as part of an important series of reactions known as the citric acid cycle or Krebs cycle. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.

Health Conditions Related to Genetic Changes

Amish lethal microcephaly

All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and the excess of alpha-ketoglutaric acid in the urine characteristic of Amish lethal microcephaly.

Leigh syndrome

MedlinePlus Genetics provides information about Leigh syndrome.

Other Names for This Gene

  • DNC
  • DNC_HUMAN
  • MCPHA
  • mitochondrial deoxynucleotide carrier
  • mitochondrial uncoupling protein 1
  • MUP1
  • solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19
  • solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
  • solute carrier family 25, member 19
  • TPC

Frequently Asked Questions

Diagnosis usually starts with clinical suspicion (severe microcephaly, developmental delay, elevated urinary α‑ketoglutaric acid). Targeted molecular testing—either Sanger sequencing or a next‑generation panel that includes SLC25A19—is performed to identify the Gly177Ala (G177A) mutation or other pathogenic variants.
SLC25A19 disease follows an autosomal‑recessive pattern. Both parents are typically carriers of one mutated allele; each subsequent pregnancy has a 25 % chance of being affected, a 50 % chance of being an asymptomatic carrier, and a 25 % chance of inheriting two normal alleles. Genetic counseling is recommended for accurate risk assessment.
Because the protein transports thiamine pyrophosphate into mitochondria, oral thiamine supplementation has been tried, but clinical trials have not shown consistent benefit for the severe neurodevelopmental phenotype of Amish lethal microcephaly. It may be considered on a case‑by‑case basis, especially for milder variants, but should be coordinated with a metabolic specialist.
The hallmark biochemical finding is markedly elevated α‑ketoglutaric acid in the urine (α‑ketoglutaric aciduria). Plasma thiamine levels are usually normal, while mitochondrial enzyme assays may show reduced activity of the α‑ketoglutarate dehydrogenase complex. These results support further genetic testing for SLC25A19.
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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