Protocadherin Fat 4
The FAT4 gene encodes a protocadherin which is involved in regulating planar cell polarity. Mutations cause autosomal recessive diseases such as Van Maldergem Syndrome 2 and Hennekam lymphangiectasia-lymphedema syndrome 2.
Genetests:
Related Diseases:
References:
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Katoh Y et al. (2006) Comparative integromics on FAT1, FAT2, FAT3 and FAT4.
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Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
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3. |
Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome.
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4. |
Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
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5. |
Neuhann TM et al. (2012) A further patient with van Maldergem syndrome.
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6. |
Mansour S et al. (2012) Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
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7. |
Cappello S et al. (2013) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
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8. |
Hoeng JC et al. (2004) Identification of new human cadherin genes using a combination of protein motif search and gene finding methods.
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9. |
Saburi S et al. (2008) Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease.
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10. |
NCBI article
NCBI 79633
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OMIM.ORG article
Omim 612411
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12. |
Orphanet article
Orphanet ID 371950
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13. |
Wikipedia article
Wikipedia EN (FAT4)
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Update: Aug. 14, 2020