Recombinant Human Mitochondrial thiamine pyrophosphate carrier (SLC25A19), Truncated

Uniprot Id

Q9HC21

Target Species

Human

Target Name

SLC25A19

Target Full Name

Mitochondrial thiamine pyrophosphate carrier

Target Function

Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.

Target Involvement

Microcephaly, Amish type (MCPHA); Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4)

Target Subcellular Location

Mitochondrion inner membrane; Multi-pass membrane protein.

Target Protein Families

Mitochondrial carrier (TC 2.A.29) family

Target Tissue Specificity

Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.

Target Research Area

Others

Target Synonyms

SLC25A19; DNC; MUP1; Mitochondrial thiamine pyrophosphate carrier; Mitochondrial uncoupling protein 1; Solute carrier family 25 member 19

Target Background

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.