- accession:NM_025243
- 基因别名:SLC19A3
- 基因描述:Homo sapiens solute carrier family 19 (thiamine transporter), member 3 (SLC19A3), mRNA.
- 载体: 现货载体
- CDS区长度:1491
- 翻译后氨基酸长度:496
- 基因简介: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]
- 载体信息:自有图片地址
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列