该基因编码的蛋白是一个大的(700kda)结构支架蛋白,由一个具有128个a a重复序列的中心结构域组成。编码蛋白可能在血脑屏障形成、细胞结构和迁移、心肌钙通道调节、肿瘤转移等多种过程中发挥作用。编码该基因的17 kDa亚型存在更短的变体,更短的异构体启动调节该基因的选择性剪接的反馈环。[由RefSeq提供,2016年10月]
The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]

基因名:AHNAK
别名:PM227,AHNAKRS
基因ID:79026
Chromosome:
(GRCh37)
11 Start: 62201014 End: 62314332 Strand: 
信号通路:  
AHNAK 基因突变与药物

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