rs554138665
This variant is located in the SLC16A1 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
4 submitters2 publicationsExercise-induced hyperinsulinism; not provided; not specified
View on ClinVar →About SLC16A1
The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
View all SLC16A1 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…