TGF-beta receptor type-1 isoform 7 [Homo sapiens]

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Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. [Eur J Hum Genet. 2023]
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, et al. Eur J Hum Genet. 2023 May; 31(5):596-601. Epub 2023 Jan 4.
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. [Am J Med Genet A. 2023]
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.
Starr LJ, Lindsay ME, Lino Cardenas CL, Yetman AT. Am J Med Genet A. 2023 Mar; 191(3):786-793. Epub 2022 Dec 30.
Shear-mediated ALK5 expression regulates endothelial activation. [Biochem Biophys Res Commun. 2023]
Shear-mediated ALK5 expression regulates endothelial activation.
Pang KT, Ghim M, Sarathchandra P, Warboys CM, Yacoub MH, Chester AH, Weinberg PD. Biochem Biophys Res Commun. 2023 Jan 29; 642:90-96. Epub 2022 Dec 21.

RefSeq genomic sequence
See the genomic reference sequence for the TGFBR1 gene (NG_007461.1).
RefSeq mRNA
See reference mRNA sequence for the TGFBR1 gene (NM_001407433.1).
RefSeq protein isoforms
See 26 reference sequence protein isoforms for the TGFBR1 gene.

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Protein