SLC16A11

Chr 17

solute carrier family 16 member 11

Also known as: MCT 11, MCT11

NCBI Gene: 162515 ENSG00000174326 UniProt: Q8NCK7 OMIM: 615765

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.

OMIM ResearchSummary from RefSeq, UniProt, Mechanism

Enables pyruvate transmembrane transporter activity. Involved in lipid metabolic process. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

MultiplemechanismLOEUF 1.44

Clinical Summary— SLC16A11

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

93 VUS of 99 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.44LOEUF

pLI 0.000

Z-score 0.51

OE 0.83 (0.50–1.44)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.38Z-score

OE missense 0.93 (0.84–1.04)

244 obs / 261.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.50–1.44)

0≤0.351.4

Missense OE?0.93 (0.84–1.04)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 9 / 10.8Missense obs/exp: 244 / 261.2Syn Z: -0.01

This gene — mechanism propensity

0.74top 25%

GOF

0.85top 5%

LOF

0.2385th %ile

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.

GOFprediction above median

DNprediction above median

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

99 submitted variants in ClinVar

ClinVar

Classification Summary

VUS93

Likely Benign4

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	88	5	93
Likely Benign	4	0	4
Benign	1	0	1
Total	93	5	98

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

19 pathogenic / likely-pathogenic (of 27) ClinVar copy-number / structural variants overlap SLC16A11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →