重组MUTED蛋白
交货期：1周
产品别名：Recombinant Bloc1s5
Recombinant biogenesis of lysosomal organelles complex-1, subunit 5, muted protein
Recombinant biogenesis of lysosomal organelles complex-1, subunit 5, muted protein
基因名：
产品别名：
背景信息：
Bloc1s5
产品别名：
1810074A19Rik； Muted； mu； Bloc1s5； biogenesis of lysosomal organelles complex-1, subunit 5, muted； biogenesis of lysosomal organelles complex-1, subunit 5, muted； biogenesis of lysosome-related organelles complex 1 subunit 5； BLOC-1 subunit 5； biogenesis of organelles complex-1, subunit 5, muted； protein Muted homolog； MUTED蛋白；
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
广州伟伯科技有限公司