FAT1 Chromosome 4

FAT atypical cadherin 1
65 variants 65 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Cadherin related
Locus Type
gene with protein product
Location
4q35.2
Ensembl
ENSG00000083857
Associated Conditions (10)
Inborn genetic diseases
FAT1-related disorder
Familial pancreatic carcinoma
Irido-corneo-trabecular dysgenesis
Anophthalmia-microphthalmia syndrome
Finnish congenital nephrotic syndrome
Congenital myasthenic syndrome 12
Multiple myeloma
Nephrotic syndrome
Neoplasm
Key Variants
All Variants (65)
RSID Category Clinical Significance Conditions
RS2477359801 Health Risk Likely pathogenic
RS369363545 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS375998390 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS570583897 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS751163127 Health Risk Likely pathogenic FAT1-related disorder, FAT1-related disorder
RS983524169 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1053599088 Health Risk Pathogenic
RS1744650400 Health Risk Pathogenic
RS1744838539 Health Risk Pathogenic
RS2477285101 Health Risk Pathogenic
RS2477302963 Health Risk Pathogenic
RS2477573063 Health Risk Pathogenic
RS577375480 Health Risk Pathogenic
RS777631605 Health Risk Pathogenic
RS928653182 Health Risk Pathogenic
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