菜单 基因医生

这个基因编码的蛋白质是原钙粘蛋白家族的一员。该基因可能在调节平面细胞极性（pcp）中发挥作用。对小鼠的研究表明，pcp信号缺失可能导致囊性肾病，该基因突变与van-maldergem综合征2有关。另外，该基因的剪接转录变体已经被发现[由RefSeq提供，2014年3月]
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]