Gene: [00.0/SLC5A5] solute carrier family 5 (sodium iodide symporter), member 5; hypothyroidism, congenital (due to sodium iodide symporter defect); thyroid hormonogenesis, genetic defect in, I (MIM:274400); [NIS ]
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FUN |
The SLC5A5 gene product is a sodium-iodide symporter and actively transports iodide across the basolateral plasma membrane of the thyroid follicular cells." |
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REF |
PAT,MUT,FOG "Fujiwara H &: Nature Genet, 16, N2, 124-125, 1997 COD,SEQ,EVO "Smanik PA &: BBRC, 226, N2, 339-345, 1996 |
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KEY |
horm, trp, ion, mem |
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CLA |
coding, basic |
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LOC |
RS |
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MIM |
MIM: 601843 |
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SYN |
NIS |
