SLC25A19
solute carrier family 25 member 19
Normal Function
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.
More About This Health ConditionRelated Conditions
Amish lethal microcephalyLeigh syndrome
Health Conditions Related to Genetic Changes
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.
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