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TKFC

Synonyms
DAK, NET45, TKFCD
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
10
Likely pathogenic
0
VUS
2,247
Likely benign
4,601
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on TKFC gene are displayed below. The following symptoms were found in patients with a variant in TKFC. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of head or neck
44.4%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the ear
22.2%
Abnormality of the eye
22.2%
Abnormality of the integument
22.2%
Growth abnormality
22.2%
Abnormality of metabolism homeostasis
11.1%
Abnormality of the breast
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the respiratory system
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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