Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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?

external link
2.

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.

external link
3.

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.

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
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.

external link
9.

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

external link
10.

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.

external link
11.

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.

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

Orphanet article

Orphanet ID 118746 external link
16.

NCBI article

NCBI 6567 external link
17.

OMIM.ORG article

Omim 300095 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz