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]


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



Hortsch M et al. (1991) Cell and substrate adhesion molecules in Drosophila.


Mahoney PA et al. (1991) The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamily.


Bryant PJ et al. (1988) Mutations at the fat locus interfere with cell proliferation control and epithelial morphogenesis in Drosophila.


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.


Katoh Y et al. (2006) Comparative integromics on FAT1, FAT2, FAT3 and FAT4.


Ishikawa HO et al. (2008) Four-jointed is a Golgi kinase that phosphorylates a subset of cadherin domains.


Morris LG et al. (2013) Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.


Gee HY et al. (2016) FAT1 mutations cause a glomerulotubular nephropathy.


OMIM.ORG article

Omim 600976 [^]

NCBI article

NCBI 2195 [^]

Wikipedia article

Wikipedia EN (FAT1) [^]
Update: April 29, 2019