Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 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
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| 14. |
NCBI article NCBI 6566
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| 15. |
OMIM.ORG article Omim 600682
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| 16. |
Wikipedia article Wikipedia EN (Monocarboxylate_transporter_1)
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