Article
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Clinical genetics - 1 May 2023
Inoue Yuta, Tsuchida Naomi, Okamoto Nobuhiko, Shuichi Shimakawa, Ohashi Kei, Saitoh Shinji, Ogawa Atsushi, Hamada Keisuke, Sakamoto Masamune, Miyake Noriko, Hamanaka Kohei, Fujita Atsushi, Koshimizu Eriko, Miyatake Satoko, Mizuguchi Takeshi, Ogata Kazuhiro, Uchiyama Yuri, Matsumoto Naomichi
Abstract excerpt
AFF3 at 2q11.2 encodes the nuclear transcriptional activator AF4/FMR2 Family Member 3. AFF3 constitutes super elongation complex like 3, which plays a role in promoting the expression of genes involved in neurogenesis and development. The degron motif in AFF3 with nine highly conserved amino acids is recognized by E3 ubiquitin ligase to induce protein degradation. Recently, AFF3 missense variants in this region...
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