rs1385750838

This variant is located in the TPK1 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…