Gene Symbol | FAT4 |
Entrez Gene ID | 79633 |
Full Name | FAT atypical cadherin 4 |
Synonyms | CDHF14,CDHR11,FAT-J,FATJ,HKLLS2,NBLA00548,VMLDS2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Van Maldergem syndrome 2, 615546 (3); Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) |