Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Hortsch M et al. (1991) Cell and substrate adhesion molecules in Drosophila. 
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| 2. |
Mahoney PA et al. (1991) The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamily.
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| 3. |
Bryant PJ et al. (1988) Mutations at the fat locus interfere with cell proliferation control and epithelial morphogenesis in Drosophila.
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| 4. |
Dunne J et al. (1995) Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule.
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| 5. |
Katoh Y et al. (2006) Comparative integromics on FAT1, FAT2, FAT3 and FAT4.
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| 6. |
Ishikawa HO et al. (2008) Four-jointed is a Golgi kinase that phosphorylates a subset of cadherin domains.
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| 7. |
Morris LG et al. (2013) Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.
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| 8. |
Gee HY et al. (2016) FAT1 mutations cause a glomerulotubular nephropathy.
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| 9. |
OMIM.ORG article Omim 600976
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| 10. |
NCBI article NCBI 2195
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| 11. |
Wikipedia article Wikipedia EN (FAT1)
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