Entity Details
Primary name |
TKFC_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q3LXA3 |
EntryName | TKFC_HUMAN |
FullName | Triokinase/FMN cyclase |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 575 |
SequenceStatus | complete |
DateCreated | 2006-01-24 |
DateModified | 2021-06-02 |
Subcellular Location
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Domains
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Domain | Name | Category | Type |
IPR004006 | DhaK domain | Domain | Domain |
IPR004007 | DhaL domain | Domain | Domain |
IPR012734 | Dihydroxyacetone kinase | Family | Family |
IPR036117 | DhaL domain superfamily | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
618805 | OMIM | Triokinase 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. |
Interactions
3 interactions