🧬 基因注释：FKBP6
📝 官方信息
官方名称：FKBP prolyl isomerase family member 6 (inactive)
功能摘要：The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
🎯 作为靶基因的剪接因子
- Ptbp2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录