A missense mutant of MAP3K7 (p.Ser192Gly) has loss of kinase activity and cause cardiospondylocarpofacial syndrome by dominant negative effect.

Tadashi Kaname; Kumiko Yanagi; Kuniaki Saito; Tohru Ishitani; Meiko Takeshita; Nana Kobayashi; Makiko Omata; Takaya Tohma; Itsuro Inoue; Yoichi Matsubara

[3P-0555] A missense mutant of MAP3K7 (p.Ser192Gly) has loss of kinase activity and cause cardiospondylocarpofacial syndrome by dominant negative effect.

〇Tadashi Kaname¹, Kumiko Yanagi¹, Kuniaki Saito², Tohru Ishitani³, Meiko Takeshita¹, Nana Kobayashi¹, Makiko Omata¹, Takaya Tohma⁴, Itsuro Inoue⁵, Yoichi Matsubara⁶ (1.Gen Med, NCCHD, 2.Invertebrate Genetics Lab, NIG, 3.Res Inst Microbial Dis, Osaka Univ, 4.Wanpaku Clinic, 5.Hum Genet, NIG, 6.NCCHD)

genetic disease, dominant negative effect, kinase

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The 42nd Annual Meeting of the Molecular Biology Society of Japan

[3P-0555] A missense mutant of MAP3K7 (p.Ser192Gly) has loss of kinase activity and cause cardiospondylocarpofacial syndrome by dominant negative effect.

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