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The official name of this gene is “solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19.”
SLC25A19 is the gene's official symbol. The SLC25A19 gene is also known by other names, listed below.
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.
The SLC25A19 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
Cytogenetic Location: 17q25.3
Molecular Location on chromosome 17: base pairs 75,272,979 to 75,289,956
The SLC25A19 gene is located on the long (q) arm of chromosome 17 at position 25.3.
More precisely, the SLC25A19 gene is located from base pair 75,272,979 to base pair 75,289,956 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SLC25A19 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alanine ; amino acid ; carrier ; cell ; compound ; dehydrogenase ; gene ; glycine ; microcephaly ; mitochondria ; molecule ; mutation ; protein ; solute ; thiamine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.