SLC16A1

SNP Table

variant	genotype	frequency	risk allele
rs1049434
rs1219857075
rs111308820
rs6537764
rs6537765
rs6663872
rs202094726
rs3789592
rs7169
rs7556664
rs768829826
rs10684892
rs1216603
rs1216737
rs1629027
rs538368270
rs773442
rs10158127
rs10857980
rs111987853

23150 associated SNPs in total

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Summary GHR Function Frequently Asked Questions

Summary

The SLC16A1 gene encodes a protein called solute carrier family 16 member 1. This gene is sometimes known as MCT1 or monocarboxylate transporter 1 [R].

SLC16A1 transports certain compounds across the cell membrane (into and out of cells). These compounds include ketone bodies, lactate, pyruvate, and lactic acid. The SLC16A1 gene is considered one of the most important for predicting how much we exercise [R, R].

Variants in SLC16A1 have been associated with [R, R, R, R]:

Athletic performance
Fatigue from exercise
Thyroid abnormalities
Liver problems

Protein names

solute carrier family 16 member 1 [Source:HGNC Symbol;Acc:HGNC:10922]

GHR Function

Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.

More Information

Covered on Genetics Home Reference: congenital hyperinsulinismFrom NCBI Gene: Exercise-induced hyperinsulinemic hypoglycemiaMonocarboxylate transporter 1 deficiencyErythrocyte lactate transporter defectFrom UniProt: Monocarboxylate transporter 1 deficiency (MCT1D): A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death. [MIM:616095] Symptomatic deficiency in lactate transport (SDLT): Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals. [MIM:245340] Familial hyperinsulinemic hypoglycemia 7 (HHF7): Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. [MIM:610021]

From NCBI Gene: 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] From UniProt: Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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