Global ETD Search
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Showing 1 to 1 of 1 for “"deficit MCT8"”.
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NOVEL INSIGHTS ON ALLAN-HERNDON-DUDLEY SYNDROME: TRANSCRIPTIONAL PROFILING AND FUNCTIONAL CHARACTERIZATION OF THREE GENETIC VARIANTS IN SLC16A2 GENE
… mutations in the SLC16A2 gene, which encodes for MCT8, a transporter responsible for thyroid hormone (TH) transport across cell membranes. THs are crucial for the development of several organs, mainly the brain and are involved in many physiological processes. Variants in SLC16A2 impact on the …