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References OMIM Gene GeneReviews HGMD HGNC
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))