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GENATLAS PHENOTYPE

last update : 24-08-2011

Symbol	NSMR4
Location	6q23.2
Name	non-syndromic mental retardation 4
Corresponding gene	MED23
Main clinical features	nonsyndromic autosomal recessive intellectual disability
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
Type	disease

Remark(s)

. mutation specifically impaired the response of JUN and FOS immediate early genes (IEGs) to serum mitogens by altering the interaction between enhancer-bound transcription factors (TCF4 and ELK1, respectively) and MED23 ()