Human SLC5A5 encodes a Na+/I- symporter, NIS (Smanik et al. 1996). NIS is localized in the basolateral membrane facing the bloodstream and mediates iodide accumulation into thyrocytes. Defects in SLC5A5 cause congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) (Fujiwara et al. 1997). NIS, together with AIT (see next reaction), mediates iodide transfer from blood to the colloid lumen of thyrocytes.
Tatsumi, K, Harada, T, Takai, S, Miyai, K, Amino, N, Fujiwara, H, Miki, K
Jhiang, SM, Mazzaferri, EL, Xing, S, Ryu, K, Furminger, TL, Liu, Q, Smanik, PA
sodium:iodide symporter activity of SLC5A5 [plasma membrane]
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