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Literature summary for 2.7.1.28 extracted from

  • Wortmann, S.; Meunier, B.; Mestek-Boukhibar, L.; van den Broek, F.; Maldonado, E.; Clement, E.; Weghuber, D.; Spenger, J.; Jaros, Z.; Taha, F.; Yue, W.; Heales, S.; Davison, J.; Mayr, J.; Rahman, S.
    Bi-allelic variants in TKFC encoding triokinase/FMN cyclase are associated with cataracts and multisystem disease (2020), Am. J. Hum. Genet., 106, 256-263 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.1.28

Cloned(Commentary)

Cloned (Comment) Organism
gene TKFC, DNA and amino acid sequence determination and analysis, genotyping, sequence comparisons, recombinant expression of human TKFC mutant variants in Saccharomyces cerevisiae cells, recombinant expression of wild-type and mutant enzymes in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
G445S naturally occuring mutation and site-directed mutagenesis, almost inactive mutant Homo sapiens
additional information analysis of bi-allelic TKFC variants from two families, DNA sequence determinations and analysis, and phenotypic analyses of genetic variants, detailed overview. Utility of genome sequencing and data sharing in the identification of an inborn error of metabolism Homo sapiens
R543I naturally occuring mutation and site-directed mutagenesis, almost inactive mutant Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + D-glyceraldehyde Homo sapiens
-
 ADP + D-glyceraldehyde 3-phosphate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q3LXA3 bifunctional triokinase/FMN cyclase
-

Purification (Commentary)

Purification (Comment) Organism
recombinant wild-type and mutant enzymes from Escherichia coli Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
cerebellum
-
 Homo sapiens
-
liver
-
 Homo sapiens
-
additional information enzyme TKFC is widely expressed with highest expression noted in the liver and small intestine Homo sapiens
-
small intestine
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + D-glyceraldehyde
-
 Homo sapiens ADP + D-glyceraldehyde 3-phosphate
-
 ?

Subunits

Subunits Comment Organism
homodimer
-
 Homo sapiens

Synonyms

Synonyms Comment Organism
TKFC
-
 Homo sapiens
triokinase/FMN cyclase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction the analyzed TKFC homozygous variants are located within the FMN lyase domain. Functional assays in yeast support the deleterious effect of these variants on protein function. Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. Further complications observed in two affected individuals included liver dysfunction and microcytic anemia, while one had fatal cardiomyopathy with lactic acidosis following a febrile illness. Deficiency of TKFC causes disruption of endogenous fructose metabolism leading to generation of by-products that can cause cataract. Deficiency of TKFC leads to impaired innate immunity in response to viral illness, which may explain the fatal illness observed in the most severely affected individual. Phenotypic analyses, oveerview Homo sapiens
physiological function TKFC encodes a bifunctional protein that has been annotated as a homodimeric triokinase and FMN cyclase. Triokinase is a component of the fructose metabolism pathway. Role of TKFC in regulating innate antiviral immunity through suppression of MDA5 Homo sapiens