This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2... See more...

Aliases for TKFC Gene

Aliases for TKFC Gene

  • Triokinase And FMN Cyclase 2 3 5
  • Triokinase/FMN Cyclase 2 3 4
  • Bifunctional ATP-Dependent Dihydroxyacetone Kinase/FAD-AMP Lyase (Cyclizing) 3 4
  • NET45 2 3
  • DAK 3 4
  • Dihydroxyacetone Kinase 2 Homolog (S. Cerevisiae) 2
  • Testis Tissue Sperm-Binding Protein Li 84P 3
  • Dihydroxyacetone Kinase 2 Homolog (Yeast) 2
  • ATP-Dependent Dihydroxyacetone Kinase 3
  • Dihydroxyacetone Kinase 2 Homolog 3
  • FAD-AMP Lyase Cyclic FMN Forming 3
  • FAD-AMP Lyase (Cyclizing) 2
  • FAD-AMP Lyase Cyclizing 3
  • Dha Kinase/FMN Cyclase 3
  • Glycerone Kinase 3
  • DKFZP586B1621 2
  • DHA Kinase 3
  • TKFCD 3
  • TKFC 5

External Ids for TKFC Gene

Previous HGNC Symbols for TKFC Gene

  • DAK

Summaries for TKFC Gene

Entrez Gene Summary for TKFC Gene

  • This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2017]

GeneCards Summary for TKFC Gene

TKFC (Triokinase And FMN Cyclase) is a Protein Coding gene. Diseases associated with TKFC include Triokinase And Fmn Cyclase Deficiency Syndrome and Sengers Syndrome. Among its related pathways are Carbon metabolism and Fructose metabolism. Gene Ontology (GO) annotations related to this gene include glycerone kinase activity and triokinase activity.

UniProtKB/Swiss-Prot Summary for TKFC Gene

  • Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:17600090).

Gene Wiki entry for TKFC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TKFC Gene

Genomics for TKFC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TKFC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TKFC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TKFC

Genomic Locations for TKFC Gene

Latest Assembly
chr11:61,333,220-61,353,426
(GRCh38/hg38)
Size:
20,207 bases
Orientation:
Plus strand

Previous Assembly
chr11:61,100,700-61,120,898
(GRCh37/hg19 by Entrez Gene)
Size:
20,199 bases
Orientation:
Plus strand

chr11:61,100,682-61,120,767
(GRCh37/hg19 by Ensembl)
Size:
20,086 bases
Orientation:
Plus strand

Genomic View for TKFC Gene

Genes around TKFC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TKFC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TKFC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TKFC Gene

Proteins for TKFC Gene

  • Protein details for TKFC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LXA3-TKFC_HUMAN
    Recommended name:
    Triokinase/FMN cyclase
    Protein Accession:
    Q3LXA3
    Secondary Accessions:
    • Q2L9C1
    • Q53EQ9
    • Q9BVA7
    • Q9H895

    Protein attributes for TKFC Gene

    Size:
    575 amino acids
    Molecular mass:
    58947 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Cofactor:
    Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Quaternary structure:
    • Homodimer (By similarity). Interacts with IFIH1 (via the CARD domains), the interaction is inhibited by viral infection (PubMed:17600090).
    Miscellaneous:
    • [Isoform 2]: Inactive as DHA kinase and FMN cyclase.

    Alternative splice isoforms for TKFC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TKFC Gene

Post-translational modifications for TKFC Gene

  • Ubiquitination at Lys372 and Lys522
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for TKFC

No data available for DME Specific Peptides for TKFC Gene

Domains & Families for TKFC Gene

Gene Families for TKFC Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for TKFC Gene

InterPro:
Blocks:
  • Dak kinase domain
  • Dak phosphatase domain

Suggested Antigen Peptide Sequences for TKFC Gene

GenScript: Design optimal peptide antigens:
  • DAK protein (A0AUP5_HUMAN)
  • Bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing) (DHAK_HUMAN)
  • Dha kinase/FMN cyclase splice variant (Q2L9C1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3LXA3

UniProtKB/Swiss-Prot:

TKFC_HUMAN :
  • DhaK and DhaL domains have differential roles, individually DhaK is inactive and DhaL displays cyclase but not kinase activity.
  • Belongs to the dihydroxyacetone kinase (DAK) family.
Domain:
  • DhaK and DhaL domains have differential roles, individually DhaK is inactive and DhaL displays cyclase but not kinase activity.
Family:
  • Belongs to the dihydroxyacetone kinase (DAK) family.
genes like me logo Genes that share domains with TKFC: view

Function for TKFC Gene

Molecular function for TKFC Gene

UniProtKB/Swiss-Prot Function:
Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:17600090).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + dihydroxyacetone = ADP + dihydroxyacetone phosphate + H(+); Xref=Rhea:RHEA:15773, ChEBI:CHEBI:15378, ChEBI:CHEBI:16016, ChEBI:CHEBI:30616, ChEBI:CHEBI:57642, ChEBI:CHEBI:456216; EC=2.7.1.29; Evidence={ECO:0000269|PubMed:32004446, ECO:0000269|PubMed:4688871};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-glyceraldehyde = ADP + D-glyceraldehyde 3-phosphate + H(+); Xref=Rhea:RHEA:13941, ChEBI:CHEBI:15378, ChEBI:CHEBI:17378, ChEBI:CHEBI:30616, ChEBI:CHEBI:59776, ChEBI:CHEBI:456216; EC=2.7.1.28; Evidence={ECO:0000269|PubMed:32004446, ECO:0000269|PubMed:4688871};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=FAD = AMP + H(+) + riboflavin cyclic-4',5'-phosphate; Xref=Rhea:RHEA:13729, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:76202, ChEBI:CHEBI:456215; EC=4.6.1.15; Evidence={ECO:0000269|PubMed:4688871};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.5 uM for dihydroxyacetone {ECO:0000269|PubMed:4688871}; KM=11 uM for glyceraldehyde {ECO:0000269|PubMed:4688871}; KM=1.55 uM for dihydroxyacetone {ECO:0000269|PubMed:24569995}; KM=43.2 uM for ATP {ECO:0000269|PubMed:24569995}; KM=18.1 uM for glyceraldehyde {ECO:0000269|PubMed:24569995}; KM=7 uM for FAD {ECO:0000269|PubMed:24569995}; KM=12 uM for ADP-glucose {ECO:0000269|PubMed:24569995}; KM=317 uM for UDP-glucose {ECO:0000269|PubMed:24569995}; KM=263 uM for UDP-galactose {ECO:0000269|PubMed:24569995}; pH dependence: Optimum pH is 6.6. {ECO:0000269|PubMed:4688871};
UniProtKB/Swiss-Prot EnzymeRegulation:
Each activity is inhibited by the substrate(s) of the other.

Phenotypes From GWAS Catalog for TKFC Gene

Gene Ontology (GO) - Molecular Function for TKFC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004371 glycerone kinase activity IEA,IDA 4688871
GO:0005515 protein binding IPI 17600090
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TKFC: view
genes like me logo Genes that share phenotypes with TKFC: view

Human Phenotype Ontology for TKFC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for TKFC

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TKFC

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TKFC Gene

Localization for TKFC Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TKFC gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 4
cytoskeleton 2
mitochondrion 2
peroxisome 2
plasma membrane 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TKFC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with TKFC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TKFC Gene

Pathways & Interactions for TKFC Gene

genes like me logo Genes that share pathways with TKFC: view

Gene Ontology (GO) - Biological Process for TKFC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006071 glycerol metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0019563 glycerol catabolic process IBA 21873635
GO:0039534 negative regulation of MDA-5 signaling pathway IDA 17600090
genes like me logo Genes that share ontologies with TKFC: view

No data available for SIGNOR curated interactions for TKFC Gene

Drugs & Compounds for TKFC Gene

(5) Drugs for TKFC Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Dihydroxyacetone Experimental Pharma 0
Dihydroxyacetone phosphate Investigational Pharma 0
ATP Investigational Nutra 0

(3) Additional Compounds for TKFC Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
glyceraldehyde
  • (+-)-Glyceraldehyde
  • 2,3-Dihydroxypropanal
  • 2,3-Dihydroxypropionaldehyde
  • Aldotriose
  • alpha,beta-Dihydroxypropionaldehyde
56-82-6
glyceraldehyde 3-phosphate
  • (2R)-2-Hydroxy-3-(phosphonooxy)-propanal
  • Glyceraldehyde 3-phosphate
  • Glyceraldehyde 3-phosphoric acid
  • Glyceraldehyde-3-phosphoric acid
  • D-Glyceraldehyde 3-phosphoric acid
591-57-1
genes like me logo Genes that share compounds with TKFC: view

Transcripts for TKFC Gene

mRNA/cDNA for TKFC Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TKFC

Alternative Splicing Database (ASD) splice patterns (SP) for TKFC Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ·
SP1: - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - - - -
SP7: - -
SP8: - - - - - -
SP9:
SP10:
SP11: -
SP12: - -
SP13:
SP14: - -
SP15: -

ExUns: 11c ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b
SP1: - -
SP2:
SP3: - - - - - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for TKFC Gene

GeneLoc Exon Structure for
TKFC

Expression for TKFC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TKFC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TKFC Gene

This gene is overexpressed in Liver, secretome (26.0) and Liver (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TKFC Gene



Protein tissue co-expression partners for TKFC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TKFC

mRNA Expression by UniProt/SwissProt for TKFC Gene:

Q3LXA3-TKFC_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level).

Evidence on tissue expression from TISSUES for TKFC Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Kidney(4.6)
  • Thyroid gland(4.4)
  • Intestine(3.8)
  • Blood(2.5)
  • Adrenal gland(2.4)
  • Skin(2.4)
  • Lymph node(2.3)
  • Spleen(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with TKFC: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TKFC Gene

Orthologs for TKFC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TKFC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DAK 29 30
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DAK 29 30
  • 89.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DAK 29 30
  • 89.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dak 29
  • 83.83 (n)
Mouse
(Mus musculus)
Mammalia Dak 29 30
  • 83.59 (n)
OneToOne
Tkfc 16
Oppossum
(Monodelphis domestica)
Mammalia DAK 30
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DAK 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 75 (a)
OneToMany
DAK 29
  • 73.83 (n)
-- 30
  • 73 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia DAK 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dak 29
  • 62.3 (n)
Zebrafish
(Danio rerio)
Actinopterygii dak 29 30
  • 60.59 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea W02H5.8 29 30
  • 49.38 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER139C 29
  • 47.79 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAK2 30
  • 33 (a)
OneToMany
DAK1 30
  • 33 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G17770 29
  • 49.03 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0719300 29
  • 48.95 (n)
Os.46088 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU04400 29
  • 46.06 (n)
Species where no ortholog for TKFC was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TKFC Gene

ENSEMBL:
Gene Tree for TKFC (if available)
TreeFam:
Gene Tree for TKFC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TKFC: view image
Alliance of Genome Resources:
Additional Orthologs for TKFC

Paralogs for TKFC Gene

No data available for Paralogs for TKFC Gene

Variants for TKFC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TKFC Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1590578831 Likely Pathogenic: TKFC deficiency; Inborn errors of metabolism; Triokinase and FMN cyclase deficiency syndrome 61,345,352(+) G/A
NM_015533.4(TKFC):c.1333G>A (p.Gly445Ser)
MISSENSE
rs547013163 Likely Pathogenic: TKFC deficiency; Inborn errors of metabolism; Triokinase and FMN cyclase deficiency syndrome 61,346,403(+) G/T
NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)
MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
VAR_083849 Triokinase and FMN cyclase deficiency syndrome (TKFCD) [MIM:618805] p.Gly445Ser
VAR_083850 Triokinase and FMN cyclase deficiency syndrome (TKFCD) [MIM:618805] p.Arg543Ile
rs2260655 -- p.Ala185Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TKFC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TKFC Gene

Variant ID Type Subtype PubMed ID
dgv662n106 CNV deletion 24896259
esv1545620 CNV deletion 17803354
esv1969466 CNV deletion 18987734
esv2497950 CNV deletion 19546169
esv2744588 CNV deletion 23290073
esv3293 CNV loss 18987735
esv3547872 CNV deletion 23714750
esv5881 CNV loss 19470904
nsv1070461 CNV deletion 25765185
nsv1147756 CNV deletion 26484159
nsv428259 CNV gain+loss 18775914
nsv832177 CNV loss 17160897

Variation tolerance for TKFC Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.92; 59.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TKFC Gene

Human Gene Mutation Database (HGMD)
TKFC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TKFC
Leiden Open Variation Database (LOVD)
TKFC

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TKFC Gene

Disorders for TKFC Gene

MalaCards: The human disease database

(7) MalaCards diseases for TKFC Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
triokinase and fmn cyclase deficiency syndrome
  • tkfcd
sengers syndrome
  • mitochondrial dna depletion syndrome 10 ; mtdps10
inherited metabolic disorder
  • inborn errors of metabolism
squamous cell bile duct carcinoma
  • bile duct squamous cell carcinoma
microcytic anemia
  • iron-refractory iron deficiency anemia
- elite association - COSMIC cancer census association via MalaCards
Search TKFC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TKFC_HUMAN
  • Triokinase and FMN cyclase deficiency syndrome (TKFCD) [MIM:618805]: 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. {ECO:0000269 PubMed:32004446}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TKFC

genes like me logo Genes that share disorders with TKFC: view

No data available for Genatlas for TKFC Gene

Publications for TKFC Gene

  1. Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. (PMID: 32004446) Wortmann SB … Rahman S (American journal of human genetics 2020) 3 4 72
  2. Bifunctional homodimeric triokinase/FMN cyclase: contribution of protein domains to the activities of the human enzyme and molecular dynamics simulation of domain movements. (PMID: 24569995) Rodrigues JR … Cameselle JC (The Journal of biological chemistry 2014) 2 3 4
  3. Identification of human and rat FAD-AMP lyase (cyclic FMN forming) as ATP-dependent dihydroxyacetone kinases. (PMID: 16289032) Cabezas A … Cameselle JC (Biochemical and biophysical research communications 2005) 3 4 22
  4. Negative regulation of MDA5- but not RIG-I-mediated innate antiviral signaling by the dihydroxyacetone kinase. (PMID: 17600090) Diao F … Shu HB (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TKFC Gene

Sources for TKFC Gene