TKFC Gene - Triokinase/FMN Cyclase
A bifunctional enzyme involved in fructose metabolism and riboflavin recycling.
Gene Information Card
| Symbol | TKFC |
|---|---|
| Full Name | Triokinase/FMN Cyclase |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 26007 ncbi.nlm.nih.gov/gene/26007 |
| Ensembl ID | ENSG00000149476 |
| UniProt ID | O15526 |
| OMIM ID | 614227 |
| HGNC ID | 17052 |
| Aliases | DKFZp686A01247, FLJ20551, MGC138290, MGC138291 |
Description
The TKFC gene encodes a bifunctional enzyme with triokinase and FMN cyclase activities. It phosphorylates dihydroxyacetone and glyceraldehyde in fructose metabolism and catalyzes the conversion of riboflavin to FMN, playing a role in vitamin B2 recycling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fructose-1,6-bisphosphatase deficiency-like phenotype | Impaired triokinase activity leads to disrupted gluconeogenesis | OMIM #614227 |
| Riboflavin deficiency | Reduced FMN cyclase activity affects flavin cofactor availability | UniProt O15526 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Liver carcinoma |
| HEK293 | 9.8 | Embryonic kidney |
| HeLa | 5.4 | Cervical carcinoma |
| A549 | 3.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced triokinase activity |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Impaired FMN cyclase activity |
| c.788delA (p.Asn263fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • glycerone kinase activity |
| • FMN cyclase activity | • fructose metabolic process |
| • riboflavin metabolic process |
Pathways
• Fructose and mannose metabolism (KEGG: hsa00051)
• Riboflavin metabolism (KEGG: hsa00740)
Protein Summary
The TKFC protein is a bifunctional enzyme (triokinase/FMN cyclase) that phosphorylates trioses in fructose metabolism and converts riboflavin to FMN. It is expressed in liver and kidney, and mutations can impair metabolic pathways leading to disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TKFC Knockout HEK293 Cell Line | EDJ-KQ8354 | Human | 26007 | Details Get a Quote |
| TKFC Knockout A-549 Cell Line | EDJ-KQ34379 | Human | 26007 | Details Get a Quote |
| TKFC Knockout HCT 116 Cell Line | EDJ-KQ34380 | Human | 26007 | Details Get a Quote |
| TKFC Knockout HeLa Cell Line | EDJ-KQ34381 | Human | 26007 | Details Get a Quote |
