人 SLC19A2 (NM_006996) cDNA克隆

Accession: NM_006996
基因名称: SLC19A2
基因别名: TC1; THT1; TRMA; THMD1; THTR1
基因描述: Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.
种属: Human
CDS区长度: 1494 (查看编码区序列)
翻译后氨基酸长度: 497 (查看氨基酸序列)
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G109216 人 SLC19A2 (NM_006996) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. [provided by RefSeq, Jul 2008]