protein O-mannosyl-transferase TMEM260 isoform X7 [Homo sapiens]

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The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease. [J Hum Genet. 2024]
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T, Takase R, Uchida K, Kodo K, Suda K, Watanabe Y, Yoshiura KI, Kunimatsu M, Ishizaki R, Azuma K, et al. J Hum Genet. 2024 May; 69(5):215-222. Epub 2024 Feb 26.
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population. [J Hum Genet. 2024]
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, Suzuki K, Kimura M, Ozawa A, Tamiya G, et al. J Hum Genet. 2024 May; 69(5):177-183. Epub 2024 Feb 13.
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. [Proc Natl Acad Sci U S A. 2023]
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Larsen ISB, Povolo L, Zhou L, Tian W, Mygind KJ, Hintze J, Jiang C, Hartill V, Prescott K, Johnson CA, et al. Proc Natl Acad Sci U S A. 2023 May 23; 120(21):e2302584120. Epub 2023 May 15.