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GENATLAS PHENOTYPE

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

Remark(s)

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))