intraflagellar transport protein 140 homolog isoform X1 [Homo sapiens]

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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. [Am J Hum Genet. 2022]
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, et al. Am J Hum Genet. 2022 Jan 6; 109(1):136-156. Epub 2021 Dec 9.
Novel IFT140 variants cause spermatogenic dysfunction in humans. [Mol Genet Genomic Med. 2019]
Novel IFT140 variants cause spermatogenic dysfunction in humans.
Wang X, Sha YW, Wang WT, Cui YQ, Chen J, Yan W, Hou XT, Mei LB, Yu CC, Wang J. Mol Genet Genomic Med. 2019 Sep; 7(9):e920. Epub 2019 Aug 8.
The Role of IFT140 in Osteogenesis of Adult Mice Long Bone. [J Histochem Cytochem. 2019]
The Role of IFT140 in Osteogenesis of Adult Mice Long Bone.
Tao D, Xue H, Zhang C, Li G, Sun Y. J Histochem Cytochem. 2019 Aug; 67(8):601-611. Epub 2019 Apr 29.

RefSeq genomic sequence
See the genomic reference sequence for the IFT140 gene (NG_032783.1).
RefSeq mRNA
See reference mRNA sequence for the IFT140 gene (XM_006720991.4).

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