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References OMIM Gene GeneReviews HGMD HGNC
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
  • 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)