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Gene

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GENATLAS PHENOTYPE

last update : 24/01/2006

Symbol	TBGMR
Location	Xq22.2
Name	psychomotor retardation with TBG deficiency
Corresponding gene	SERPINA7
Main clinical features	either reduced or increased thyroxine-binding globulin so that patients show, respectively, reduced or elevated protein-bound iodine (PBI) but are euthyroid associated to mental retardation
Genetic determination	sex linked
Function/system disorder	metabolism/membrane transport
Type	disease

Gene product

Name	thyroxin binding globulin (SERPINA7)

Remark(s)