SLC16A11
Chr 17solute carrier family 16 member 11
Also known as: MCT 11, MCT11
The protein functions as a proton-linked monocarboxylate transporter that catalyzes pyruvate transport across the plasma membrane and is involved in hepatic lipid metabolism. Based on the extremely low pLI score and high LOEUF value, this gene appears highly tolerant to loss-of-function variants, with predicted gain-of-function being the likely pathogenic mechanism. However, no specific pediatric neurologic diseases have been definitively associated with SLC16A11 mutations in the provided data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC16A11 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools