Background: Defects in SLC16A2 are the cause of monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]; also known as Allan-Herndon-Dudley syndrome (AHDS). MCT8 deficiency consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects.
Description: Rabbit polyclonal to MCT8
Immunogen: KLH conjugated synthetic peptide derived from MCT8
Specificity: ·Reacts with Human, Mouse, Rabbit and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 60 kDa;
·Immunohistochemistry (Frozen/paraffin tissue section): 1/50-200;
·Immunocytochemistry: 1/100;
· Optimal working dilutions must be determined by the end user.
