zgc:111878 antikoerper, 2900089E13Rik antikoerper, DNC antikoerper, MUP1 antikoerper, TPC antikoerper, MCPHA antikoerper, THMD3 antikoerper, THMD4 antikoerper, solute carrier family 25 member 19 antikoerper, solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 antikoerper, Slc25a19 antikoerper, slc25a19 antikoerper, SLC25A19 antikoerper
Hintergrund
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. Synonyms: Polyclonal SLC25A19 antibody, Anti-SLC25A19 antibody, solute carrier family 25, mitochondrial thiamine pyrophosphate carrier, member 19 antibody, DNC antibody, MCPHA antibody, MUP1 antibody, TPC antibody.