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.

The following transcription factors affect gene expression:

Tissue specificity:

Detected in heart and in blood lymphocytes and monocytes (at protein level). Widely expressed.

Molecular Function:

• Monocarboxylic Acid Transmembrane Transporter Activity
• Lactate Transmembrane Transporter Activity
• Mevalonate Transmembrane Transporter Activity
• Symporter Activity
• Organic Cyclic Compound Binding

Biological Processes:

• Pyruvate Metabolic Process
• Lipid Metabolic Process
• Monocarboxylic Acid Transport
• Mevalonate Transport
• Response To Food
• Plasma Membrane Lactate Transport
• Glucose Homeostasis
• Regulation Of Insulin Secretion
• Leukocyte Migration
• Centrosome Organization
• Behavioral Response To Nutrient
• Cellular Response To Organic Cyclic Compound

Drug Bank:

• Aminohippurate
• Gamma Hydroxybutyric Acid
• Benzoic Acid
• Foscarnet
• Lactic Acid
• Methotrexate
• Nateglinide
• Niacin
• Pravastatin
• Probenecid
• Pyruvic Acid
• Salicylic Acid
• Valproic Acid
• Acetic Acid
• Ampicillin
• Niflumic Acid