ID:TPC_HUMAN DESCRIPTION: RecName: Full=Mitochondrial thiamine pyrophosphate carrier; AltName: Full=Mitochondrial uncoupling protein 1; AltName: Full=Solute carrier family 25 member 19; FUNCTION: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain. DISEASE: Defects in SLC25A19 are the cause of microcephaly Amish type (MCPHA) [MIM:607196]; also known as Amish lethal microcephaly. MCPHA is an autosomal recessive metabolic disorder characterized by severe congenital microcephaly, severe 2- ketoglutaric aciduria and death within the first year. DISEASE: Defects in SLC25A19 are the cause of striatal necrosis bilateral and progressive polyneuropathy (SNBPP) [MIM:613710]. A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. MISCELLANEOUS: The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity). SIMILARITY: Belongs to the mitochondrial carrier family. SIMILARITY: Contains 3 Solcar repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A19";
Pfam Domains: PF00153 - Mitochondrial carrier protein
ModBase Predicted Comparative 3D Structure on Q9HC21
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