AMER1

该基因编码的蛋白上调了wilms肿瘤蛋白的转录激活,并与许多其他蛋白相互作用,包括ctnnb1、apc、axin1和axin2。这种基因的缺陷是导致头颅硬化(OSCS)的纹状体骨病变的原因。
The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS).

别名

FAM123B,OSCS,WTX

基因id

Chromosome:X Start: 63404997 End: 63425624 Strand: -1

药物

突变与药物

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相关基因检测

genes