rs778011281

This variant is located in the TPK1 gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication

not specified; Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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About TPK1

The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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