蛋白质/抗原/多肽 >> 重组蛋白
重组MUTED蛋白
半岛bd体育手机客户端 介绍
基因名:
Bloc1s5 半岛bd体育手机客户端 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]
标签:His-tag |
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