SLC25A19
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
DNC, MCPHA, MUP1, THMD3, THMD4, TPC
Human SLC25A19 (60386), Mouse Slc25a19 (67283), Rat Slc25a19 (303676), sheep SLC25A19 (100217405), cow SLC25A19 (504418), domestic guinea pig Slc25a19 (100716491), domestic cat SLC25A19 (101099415), chicken SLC25A19 (422123), Zebrafish slc25a19 (403024), dog SLC25A19 (483311)
- Human(60386) Summary: This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
- Mouse(67283) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- Rat(303676) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- sheep(100217405) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- cow(504418) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- domestic guinea pig(100716491) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- domestic cat(101099415) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- chicken(422123) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- Zebrafish(403024) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- dog(483311) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
- naked mole-rat(101715161) solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
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