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GENATLAS PHENOTYPE

last update : 16-09-2015

Symbol	MRX12
Location	Xq25
HGNC id	7241
Name	mental retardation,12
Corresponding gene	THOC2
Main clinical features	intellectual disability that ranged from borderline to severe; common additional features included speech delay, short stature, elevated body mass index (BMI), and a truncal obesity pattern in older males variable neurologic features, including hypotonia, tremor, gait disturbances, and behavioral problems, seizures
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Remark(s)

overlapping with a large number of other MRX gene regions : MRX1 (309530), MRX5, MRX7, MRX8, MRX9 (309549), MRX10, MRX11, MRX13, MRX14 (300062), MRX15, MRX18, MRX22, MRX26, MRX31, MRX38, MRX50 (300115) altered amino acids are located in the RNA-binding domains of two complex THOC2 structures, potentially representing two different intermediate RNA-binding states of THOC2 during RNA transport (PMID: 26166480))