Entrez gene ID | | 6567 |
Official gene symbol | | SLC16A2 |
Full name | | solute carrier family 16, member 2 (monocarboxylic acid transporter 8) |
Aliases | | ,AHDS,DXS128,DXS128E,MCT 7,MCT 8,MCT7,MCT8,MRX22,XPCT, |
Gene summary | | This gene encodes an integral membrane protein transporter of thyroid hormone; specifically, cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues including brain, heart, placenta, lung, kidney, skeletal muscle, and liver. This gene 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. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xq13.2 |
Gene position | | 73641085 - 73753752 Map Viewer |
Gene orientation | | plus |
Gene size | | 112668 bp |
Gene sequence |
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OMIM ID | | 300095 |
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