Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protocadherin Fat 1

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]

Genetests:

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

Related Diseases:

Glomerulotubular nephropathy
FAT1

References:

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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Update: Sept. 26, 2018