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GENATLAS PHENOTYPE

last update : 05-10-2017

Symbol	MRX54
Location	Xp21.3
HGNC id	7287
Name	mental retardation, 54
Corresponding gene	ARX
Other symbol(s)	MRX38, MRX43, MRX33, MRX29, MRX32, MRX76, MRX87
Main clinical features	moderate to profound nonprogressive mental retardation recognized in early childhood
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Remark(s)

overlapping with MRX29, MRX 32, MRX 33, MRX38, MRXS1 mutation expanding the second tract of polyA ( binding of these expanded polyalanine tract mutant ARX proteins to IPO13 may be less efficient than that of the normal ARX protein and may lead to compromised nuclear import, contributing in part to the molecular pathogenesis of these disorders)