9ikv

Structural highlights

Disease

S26A7_HUMAN Disease-causing variants in SLC26A7 have been found in patients with thyroid dyshormonogenesis and congenital goitrous hypothyroidism.^{[1] [2] [3]}

Function

S26A7_HUMAN Acts as an anion channel mediating the transport of chloride, sulfate and oxalate ions (PubMed:11834742). Mediates the transport of bromide, iodide, nitrate, gluconate, thiocyanate and bicarbonate ions (By similarity). Its permeability towards bicarbonate is weak and increases when pH is above 7 (By similarity). Mediates thiocyanate transport in retinal pigment epithelium cells (By similarity). Mediates iodide transport in the thyroid gland, playing an important role in the synthesis of thyroid hormones and the maintenance of thyroid function (PubMed:31372509). Although it is an anion channel, according to PubMed:12736153 and PubMed:32119864 it has been shown to exhibit chloride-bicarbonate exchanger activity.[UniProtKB:Q8R2Z3]^{[4] [5] [6] [7]}

References

1. ↑ Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED, Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S, Schoenmakers N. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight. 2018 Oct 18;3(20):e99631. PMID:30333321 doi:10.1172/jci.insight.99631
2. ↑ Ishii J, Suzuki A, Kimura T, Tateyama M, Tanaka T, Yazawa T, Arimasu Y, Chen IS, Aoyama K, Kubo Y, Saitoh S, Mizuno H, Kamma H. Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. Commun Biol. 2019 Jul 24;2:270. PMID:31372509 doi:10.1038/s42003-019-0503-6
3. ↑ Hermanns P, Claßen C, Pohlenz J. A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism. Thyroid. 2020 Dec;30(12):1831-1833. PMID:32486989 doi:10.1089/thy.2020.0293
4. ↑ Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J. Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem. 2002 Apr 19;277(16):14246-54. Epub 2002 Feb 7. PMID:11834742 doi:http://dx.doi.org/10.1074/jbc.M111802200
5. ↑ Petrovic S, Ju X, Barone S, Seidler U, Alper SL, Lohi H, Kere J, Soleimani M. Identification of a basolateral Cl-/HCO3 cells. Am J Physiol Gastrointest Liver Physiol. 2003 Jun;284(6):G1093-103. PMID:12736153 doi:10.1152/ajpgi.00454.2002
6. ↑ Ishii J, Suzuki A, Kimura T, Tateyama M, Tanaka T, Yazawa T, Arimasu Y, Chen IS, Aoyama K, Kubo Y, Saitoh S, Mizuno H, Kamma H. Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. Commun Biol. 2019 Jul 24;2:270. PMID:31372509 doi:10.1038/s42003-019-0503-6
7. ↑ Ullah AKMS, Rumley AC, Peleh V, Fernandes D, Almomani EY, Berrini M, Lashhab R, Touret N, Alexander RT, Herrmann JM, Cordat E. SLC26A7 protein is a chloride/bicarbonate exchanger and its abundance is Biochim Biophys Acta Biomembr. 2020 Jun 1;1862(6):183238. PMID:32119864 doi:10.1016/j.bbamem.2020.183238