Solute carrier family 25 member 19 (SLC25A19)

Solute carrier family 25 member 19 (SLC25A19) is a mitochondrial transporter protein embedded in the inner mitochondrial membrane. It primarily functions as the mitochondrial thiamine pyrophosphate (ThPP) carrier, importing ThPP into the mitochondrial matrix. This transport is essential for the activity of ThPP-dependent enzymes, such as the α-ketoglutarate dehydrogenase complex, which is vital for mitochondrial energy metabolism in the citric acid (Krebs) cycle. Genetic loss-of-function mutations in SLC25A19 cause devastating metabolic diseases, including Amish lethal microcephaly—characterized by severe congenital microcephaly, α-ketoglutaric aciduria, and neonatal lethality due to impaired mitochondrial function and abnormal brain development[1][2][4][6]. The protein was previously thought to function as a deoxynucleotide carrier, but its primary physiological role is now recognized as ThPP transport[2][6]. No drugs are currently known to target SLC25A19 directly.

Other names

DNCDNC_HUMANMCPHAMitochondrial deoxynucleotide carrierhMTPPT

Not applicable; no known drugs with a defined mechanism of action targeting SLC25A19 transporter.