Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Monocarboxylat-Transporter 8

Das SLC16A2-Gen kodiert den Membrantransporter für Schilddrüsenhormon. Bei Mutationen kommt es zur x-chromosomal dominanten Trijodthyronin-Resistenz, dem Allan-Herndon-Dudley-Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Allan-Herndon-Dudley-Syndrom
SLC16A2

Referenzen:

1.

Visser WE et al. (2010) Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.

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2.

Passos-Bueno MR et al. (1993) Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

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3.

Dumitrescu AM et al. (2004) A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

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4.

Schwartz CE et al. (2005) Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

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5.

Maranduba CM et al. (2006) Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.

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6.

Frints SG et al. (2008) MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

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7.

Lafrenière RG et al. (1994) A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.

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8.

Debrand E et al. (1998) Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene.

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9.

Friesema EC et al. (2003) Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.

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10.

Dumitrescu AM et al. (2006) Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.

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11.

Trajkovic M et al. (2007) Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.

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12.

Jansen J et al. (2008) Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.

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13.

Roberts LM et al. (2008) Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.

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14.

Wirth EK et al. (2009) Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.

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15.

Orphanet article

Orphanet ID 118746 [^]
16.

NCBI article

NCBI 6567 [^]
17.

OMIM.ORG article

Omim 300095 [^]
Update: 29. April 2019