🧬 基因注释：GEMIN5
📝 官方信息
官方名称：gem nuclear organelle associated protein 5
功能摘要：This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011].
🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
(0.818)
genetic disorder
(0.505)
neurodegenerative disease
(0.462)
alcohol drinking
(0.372)
autosomal recessive non-syndromic intellectual disability
(0.370)