这个基因编码ARM(犰狳/β连环蛋白样重复序列)超家族的一个成员臂重复是一个串联重复的序列基序,长约40个氨基酸。这种重复与介导蛋白质-蛋白质相互作用有关编码的蛋白质含有七个重复臂。该基因突变与原发性双侧大结节性肾上腺增生有关,也被称为acth非依赖性大结节性肾上腺增生2。另一种编码不同的异构体的剪接转录变体已被发现用于该基因。[由RefSeq提供,2014年9月]
This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

基因名:ARMC5
别名:AIMAH2
基因ID:79798
Chromosome:
(GRCh37)
16 Start: 31469010 End: 31478488 Strand: 
信号通路:  
ARMC5 基因突变与药物

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