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FN1

From SNPedia
is agene
is mentioned by
ClinVarFN1
GeneCardsFN1
DiseasesFN1
wikipediaFN1
googleFN1
gopubmedFN1
EVSFN1
HEFalMpFN1
MyGene2FN1
23andMeFN1
# SNPs17
 Max MagnitudeChromosome positionSummary
rs10202709215,433,507
rs10647951550215,428,331
rs12502040215,379,109
rs1250215215,388,316
rs1250248215,422,370
rs1378544860215,376,612
rs1378544870215,375,685
rs1378544885215,406,306
rs17458018215,420,652
rs2304573215,378,927
rs35343655215,386,974
rs3796123215,419,235
rs67075301.1215,375,861
rs6725958215,397,898
rs7970449060215,404,591
rs8690251980215,376,610
rs8690251990215,386,885

The FN1 gene provides instructions for making two types of the fibronectin-1 protein: soluble plasma fibronectin-1 and insoluble cellular fibronectin-1.

At least three mutations in the FN1 gene have been found to cause fibronectin glomerulopathy, a progressive kidney disease that usually begins in adulthood and results in irreversible kidney failure (end-stage renal disease). FN1 gene mutations account for about 40 percent of cases of fibronectin glomerulopathy. One mutation that occurs in multiple families replaces the amino acid tyrosine with the amino acid cysteine at position 973 in the fibronectin-1 protein (written as Tyr973Cys or Y973C; rs137854488).GHR

FN1 mutations have also been found to cause defective fibronectin secretion, leading to spondylometaphyseal dysplasias (SMDs), a diverse group of skeletal dysplasias often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis.10.1016/j.ajhg.2017.09.019