Entity Details

Primary name TKFC
Entity type gene
Source Source Link

Details

PrimaryID26007
RefseqGene
SymbolTKFC
Nametriokinase and FMN cyclase
Chromosome11
Location11q12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTKFC_HUMAN

GO terms

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GOName
GO:0004371 glycerone kinase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005829 cytosol
GO:0019563 glycerol catabolic process
GO:0034012 FAD-AMP lyase (cyclizing) activity
GO:0039534 negative regulation of MDA-5 signaling pathway
GO:0044262 cellular carbohydrate metabolic process
GO:0045087 innate immune response
GO:0045088 regulation of innate immune response
GO:0046835 carbohydrate phosphorylation
GO:0046872 metal ion binding
GO:0050354 triokinase activity
GO:0061624 fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
618805 OMIMTriokinase and FMN cyclase deficiency syndrome (TKFCD)An autosomal recessive disease characterized by cataracts and developmental delay that may be associated with cerebellar hypoplasia. Additional features may include liver dysfunction, microcytic anemia, and fatal cardiomyopathy with lactic acidosis following a febrile illness. The disease is caused by variants affecting the gene represented in this entry.