RING 域中独特的错义突变损害 MID1 E3 泛素连接酶活性和定位 , 并与罕见的 Opitz 综合征样体征相关。
关键词: E3 ubiquitin ligase MID1/TRIM18 Microtubule localisation Opitz G/BBB syndrome Ubiquitination
Mesh : Humans Cleft Palate / genetics Esophagus / abnormalities Genetic Diseases, X-Linked Hypertelorism Hypospadias Mutation, Missense Ubiquitin-Protein Ligases / genetics metabolism
来 源: DOI:10.1016/j.bbadis.2024.167126