蛋白质/抗原/多肽 >> 重组蛋白
重组溶质载体家族19成员3蛋白
产品介绍 基因名: SLC19A3 产品别名: BBGD; THMD2; THTR2; thTr-2; SLC19A3; solute carrier family 19 member 3; solute carrier family 19 member 3; thiamine transporter 2; solute carrier family 19 (thiamine transporter), member 3; 溶质载体家族19成员3; 背景信息: This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010] 标签:His-tag |
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