Aliases for FAT4 Gene
External Ids for FAT4 Gene
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]
GeneCards Summary for FAT4 Gene
FAT4 (FAT Atypical Cadherin 4) is a Protein Coding gene. Diseases associated with FAT4 include van maldergem syndrome 2 and van maldergem syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS1.
UniProtKB/Swiss-Prot for FAT4 Gene
Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity).