重组溶质载体家族25成员19蛋白
交货期:1周
产品别名:重组线粒体解偶联蛋白1
Recombinant SLC25A19
基因名:
SLC25A19
产品别名:
DNC; MCPHA; MUP1; THMD3; THMD4; TPC; SLC25A19; solute carrier family 25 member 19; solute carrier family 25 member 19; mitochondrial thiamine pyrophosphate carrier; mitochondrial uncoupling protein 1; solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19; solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19; 溶质载体家族25成员19; 线粒体解偶联蛋白1;
背景信息:
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]
产品发布日期:2026.03.20