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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-11-2012
Symbol MRX3
Location Xq28
HGNC id 7260
Name mental retardation, 3
Corresponding gene HCFC1
Main clinical features
  • nonspecific isolated X-linked mental retardation
  • affected males function within a variable range, from mild to moderate intellectual disability
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease
  • in the same interval than MRXS31, MRX25, MRX28, MRX25,MRX41,MRX4, but not mutated in GDI1
  • in the binding site of transcription factor YY1 a regulatory mutation that leads to overexpression of the chromatin-associated transcriptional regulator HCFC1, leading to a significant increase of the production of astrocytes and a considerable reduction in neurite growth (PMID: 23000143))