TKFC Chromosome 11

Triokinase and FMN cyclase

2 variants 2 Health Risk

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What This Gene Does

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]

Associated Conditions (3)

Triokinase and FMN cyclase deficiency syndrome

TKFC deficiency

Inborn errors of metabolism

Key Variants

RS1590578831

Likely pathogenic

Triokinase and FMN cyclase deficiency syndrome, TKFC deficiency, Inborn errors of metabolism

Health Risk

RS547013163

Likely pathogenic

TKFC deficiency, Inborn errors of metabolism, Triokinase and FMN cyclase deficiency syndrome

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1590578831	Health Risk	Likely pathogenic	Triokinase and FMN cyclase deficiency syndrome, TKFC deficiency, Inborn errors of metabolism
RS547013163	Health Risk	Likely pathogenic	TKFC deficiency, Inborn errors of metabolism, Triokinase and FMN cyclase deficiency syndrome