Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Monocarboxylate transporter 8

The SLC16A2 gene encodes the membrane transporter of thyroid hormone. Mutations cause x-linked dominant triiodothyronine resistance, Allan-Herndon-Dudley syndrome.

Genetests:

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

Related Diseases:

Allan-Herndon-Dudley syndrome
SLC16A2

References:

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.

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

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3.

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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4.

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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5.

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

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6.

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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7.

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

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8.

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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9.

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

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10.

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

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11.

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

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12.

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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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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Update: Sept. 26, 2018