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The antibody detects endogenous levels of total SLC19A2 protein.
SLC19A2 encodes a 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: high affinity thiamine transporter; reduced folate carrier protein (RFC) like; solute carrier family 19 (thiamine transporter), member 2; Solute carrier family 19 member 2; TC1; Thiamine carrier 1; Thiamine transporter 1; ThTr-1
基因别名: SLC19A2; TC1; THMD1; THT1; THTR1; TRMA
UniProt ID: (Human) Q9UKJ2
Entrez Gene ID: (Human) 10560
分子生物学功能: transporter