rs375169579
This is a splice region variant variant in the TPK1 gene.
▶ClinVar annotation
Pathogenic★★★☆
8 submitters6 publicationsChildhood encephalopathy due to thiamine pyrophosphokinase deficiency; Leigh syndrome (NULS)
View on ClinVar →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]
View all TPK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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