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Enzyme-linked Immunoabsorbent Assay

Western Blot (Recombinant protein)

Antibody Production

Protein Array

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

SLC25A19

Gene Alias

DNC, MCPHA, MUP1, TPC

Gene Description

solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19

Omim ID

Gene Ontology

Gene 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

Other Designations

mitochondrial uncoupling protein 1|solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19|solute carrier family 25, member 19