SLC16A1 cDNA Clone – Solute Carrier Family 16, Member 1 (Monocarboxylic Acid Transporter 1) (Human)

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]

MCT1: Proton-linked 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. Defects in SLC16A1 are the cause of symptomatic deficiency in lactate transport (SDLT); also known as erythrocyte lactate transporter defect. 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. Defects in SLC16A1 are the cause of familial hyperinsulinemic hypoglycemia type 7 (HHF7); also known as exercise-induced hyperinsulinemic hypoglycemia. HHF7 is a dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.

Protein type: Transporter, SLC family; Membrane protein, multi-pass; Mitochondrial; Membrane protein, integral; Transporter

Chromosomal Location of Human Ortholog: 1p12

Cellular Component: centrosome; integral to membrane; integral to plasma membrane; membrane; plasma membrane

Molecular Function: lactate transmembrane transporter activity; mevalonate transmembrane transporter activity; monocarboxylic acid transmembrane transporter activity

Biological Process: centrosome organization and biogenesis; leukocyte migration; mevalonate transport; monocarboxylic acid transport; pyruvate metabolic process

Disease: Erythrocyte Lactate Transporter Defect; Hyperinsulinemic Hypoglycemia, Familial, 7; Monocarboxylate Transporter 1 Deficiency