Gene: SLC16A2

Alternate names for this Gene: AHDS|DXS128|DXS128E|MCT 7|MCT 8|MCT7|MCT8|MRX22|XPCT

Gene Summary: This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome.

Gene is located in Chromosome: X

Location in Chromosome : Xq13.2

Description of this Gene: solute carrier family 16 member 2

Type of Gene: protein-coding

rs104894931 in SLC16A2 gene and Allan-Herndon-Dudley syndrome (AHDS) PMID 26426690 2015 Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.

PMID 18636565 2009 Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.

PMID 25380603 2015 Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

PMID 15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

PMID 23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

PMID 14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

PMID 25527620 2015 Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.

PMID 15488219 2004 Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.

PMID 27805744 2017 Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

PMID 24265446 2014 The role of Arg445 and Asp498 in the human thyroid hormone transporter MCT8.

rs587784384 in SLC16A2 gene and Dysmorphic features PMID 15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

PMID 12871948 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.

PMID 22805248 2013 MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

PMID 21098685 2011 Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

PMID 18398436 2008 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

PMID 14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

PMID 2393019 1990 Allan-Herndon syndrome. I. Clinical studies.

PMID 21896621 2011 A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.

PMID 20628049 2010 Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.

PMID 27672545 2016 Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 24629861 2014 Inherited defects in thyroid hormone cell-membrane transport and metabolism.

PMID 24665922 2014 Genetic disorders of thyroid metabolism and brain development.

rs587784384 in SLC16A2 gene and Muscle hypotonia PMID 15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

PMID 21896621 2011 A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.

PMID 21098685 2011 Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

PMID 20628049 2010 Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.

PMID 18398436 2008 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

PMID 23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

PMID 24629861 2014 Inherited defects in thyroid hormone cell-membrane transport and metabolism.

PMID 22805248 2013 MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

PMID 27672545 2016 Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

PMID 2393019 1990 Allan-Herndon syndrome. I. Clinical studies.

PMID 24665922 2014 Genetic disorders of thyroid metabolism and brain development.

PMID 12871948 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.