FN3KRP

fructosamine 3 kinase related protein

Summary

A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Known Variants37 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1293734617:80,672,822T/A——
rs75894517217:80,674,648G/A—likely benign
rs74895892017:80,674,654A/G—uncertain significance
rs75479799617:80,674,659G/C—uncertain significance
rs77309668917:80,674,680A/T—uncertain significance
rs76530581517:80,674,692G/C—uncertain significance
rs55063671117:80,674,708G/A—uncertain significance
rs20006274517:80,674,710C/G—uncertain significance
rs37648063017:80,674,725G/C—uncertain significance
rs119759726617:80,674,732A/G—uncertain significance
rs77230601117:80,676,819C/T—uncertain significance
rs156805960317:80,678,158A/C—uncertain significance
rs75071863317:80,678,215C/T—uncertain significance
rs37205994117:80,680,703C/T—uncertain significance
rs20109296517:80,680,704G/A—uncertain significance
rs37540764417:80,680,723T/G—uncertain significance
rs89335354017:80,680,752A/G—uncertain significance
rs96701638117:80,680,761A/G—uncertain significance
rs14911645717:80,684,396G/A—likely benign
rs14203610117:80,684,446A/G—uncertain significance
rs75715425717:80,684,467T/C—uncertain significance
rs55622257217:80,684,806C/T—uncertain significance
rs37428437517:80,684,813T/G—uncertain significance
rs132123946717:80,684,827C/A—uncertain significance
rs77316630317:80,684,835G/A—uncertain significance
rs77103563217:80,684,842C/T—uncertain significance
rs251031197817:80,684,868A/G—uncertain significance
rs251031199417:80,684,881T/C—uncertain significance
rs75092794917:80,684,901G/A—uncertain significance
rs37633778317:80,684,928C/A—uncertain significance
rs76297780417:80,684,943C/T—uncertain significance
rs76433768117:80,684,944G/A—uncertain significance
rs37201512617:80,684,971A/G—uncertain significance
rs57716477617:80,684,986A/C—uncertain significance
rs251031213717:80,685,012T/A—uncertain significance
rs104687517:80,685,426A/Gdownstream gene variant—
rs104689617:80,685,533C/Tdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.