FAT4
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1342504
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资源简介：
The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]
本基因编码的蛋白质属于原钙粘蛋白家族。该基因可能在调节平面细胞极性（PCP）中发挥作用。小鼠研究提示，PCP信号通路的丧失可能导致囊性肾脏病，且该基因的突变与范马尔代尔格姆综合征2（Van Maldergem Syndrome 2）相关。对于此基因，已观察到存在选择性剪接的转录变体。[由RefSeq提供，2014年3月]
提供机构：
Rat Genome Database
