🧬 基因注释：NOVA2
📝 官方信息
官方名称：NOVA alternative splicing regulator 2
功能摘要：Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
(0.696)
complex neurodevelopmental disorder
(0.462)
Neurodevelopmental disorder
(0.371)
Severe intellectual disability
(0.340)
Intellectual disability
(0.333)