Membrantrasnporter 16-1
Das Gen SLC16A1 kodiert einen Membrantransporter, welcher für den Transport einfacher organischer Säuren, Monocarboxylate, wie zum Beispiel Lactat und Pyrovat, verantweitlich ist. Mutationen sind für zwei autosomal dominanten Erkrankungen verantwortlich. Bei inaktivierenden Mutationen kommt es zu einem gestörten Lactattransport aus den Erythrozyten. Bei aktivierenden Mutationen ist eine hyperinsulinämische Hypoglycämie (Typ 7) beobachtet worden. Die bisher nachgewiesenen aktivierenden Mutationen führen zu einer Steigerung der Transkription und damit zu einer Erhöhung der Anzahl von Transportermolekülen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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 Artikel
Wikipedia DE (Monocarboxylat-Transporter_1)
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Update: 14. August 2020