RecName: Full=Immunoglobulin superfamily member 1; Short=IgSF1; AltNam - Protein

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[Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants].
Zhang C, Chen L, Chen X, Xie R, Wang F, Chen T, Wang X, Sun H, Zhang D, Wu H. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Mar 10; 40(3):322-327.
IGSF1 mutation as a cause of isolated central hypothyroidism. [Endocrinol Diabetes Nutr (Engl...]
IGSF1 mutation as a cause of isolated central hypothyroidism.
Costas Eimil J, Sánchez-Sobrino P. Endocrinol Diabetes Nutr (Engl Ed). 2022 Dec; 69(10):913-914. Epub 2022 Dec 1.
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency. [Eur J Endocrinol. 2022]
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R, Reynaud R, Mougel G, Castets S, Bretones P, Dauriat B, Edouard T, Raverot G, Barlier A, Brue T, et al. Eur J Endocrinol. 2022 Dec 1; 187(6):787-795. Epub 2022 Nov 3.

RefSeq genomic sequence
See the genomic reference sequence for the IGSF1 gene (NG_021190.4).
RefSeq protein isoforms
See 19 reference sequence protein isoforms for the IGSF1 gene.

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Q8N6C5 [Domain Mapping of Disease Mut...]
Q8N6C5
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
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Protein