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GENATLAS PHENOTYPE

last update : 28-03-2009

Symbol	MCT8D
Location	Xq13.2
Name	monocarboxylate transporter 8 deficiency
Corresponding gene	SLC16A2
Main clinical features	developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing
Genetic determination	sex linked
Related entries	including paroxysmal kinesigenic dyskinesias (PKD), provoked by certain stimuli including changing of their clothes or diapers
Function/system disorder	neurology
Type	disease

Gene product

Name	solute carrier family 16 (monocarboxylic acid transporters), member 2

Remark(s)

abnormal brain development in patients with MCT8 mutations may be the consequence of either decreased or increased intracellular T3 concentrations (Visser 2009)