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

Related Diseases:

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

References:

1.

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

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2.

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

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3.

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

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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.

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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6.

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

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7.

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

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8.

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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9.

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

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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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13.

Orphanet article

Orphanet ID 168122 [^]
14.

NCBI article

NCBI 6566 [^]
15.

OMIM.ORG article

Omim 600682 [^]
16.

Wikipedia article

Wikipedia EN (Monocarboxylate_transporter_1) [^]
Update: April 29, 2019