Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)

The Gene SLC16A1 encodes a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Loss-of-function mutations are associated with autosomal dominant erythrocyte lactate transporter defect that shows decreased erythrocyte lactate clearance. Grain-of-function mutations located in the promotor enhance transcription and the amount of mature transporters which results in autosomal dominant hyperinsulinemic hypoglycemia type 7.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 5
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hyperinsulinemic hypoglycemia 7
SLC16A1
Erythrocyte lactate transporter defect
SLC16A1
Monocarboxylate transporter 1 deficiency
SLC16A1

References:

1.

Merezhinskaya N et. al. (2000) Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.

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2.

Meissner T et al. (2001) Exercise induced hypoglycaemic hyperinsulinism.

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3.

Cuff MA et al. (2002) The human monocarboxylate transporter, MCT1: genomic organization and promoter analysis.

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4.

Otonkoski T et al. (2003) Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release.

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5.

Kim CM et al. (1992) cDNA cloning of MEV, a mutant protein that facilitates cellular uptake of mevalonate, and identification of the point mutation responsible for its gain of function.

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6.

Otonkoski T et al. (2007) Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.

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7.

Quintens R et al. (2008) Why expression of some genes is disallowed in beta-cells.

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8.

Lee Y et al. (2012) Oligodendroglia metabolically support axons and contribute to neurodegeneration.

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9.

None (1986) Lactate transporter defect: a new disease of muscle.

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10.

Garcia CK et al. (1994) cDNA cloning of the human monocarboxylate transporter 1 and chromosomal localization of the SLC16A1 locus to 1p13.2-p12.

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11.

Garcia CK et al. (1994) Molecular characterization of a membrane transporter for lactate, pyruvate, and other monocarboxylates: implications for the Cori cycle.

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12.

Ritzhaupt A et al. (1998) Identification and characterization of a monocarboxylate transporter (MCT1) in pig and human colon: its potential to transport L-lactate as well as butyrate.

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Update: Sept. 26, 2018