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GENATLAS PHENOTYPE
last update : 24-06-2014
Symbol MRT2A
Location 3p26.2
Name mental retardation, 2A
Corresponding gene CRBN
Other symbol(s) ARNSMR1, MRAR1, MRNS1
Main clinical features non-syndromic, mild mental retardation, associated with an IQ between 50 and 70
Genetic determination autosomal recessive
Function/system disorder mental retardation
Type disease
Gene product
Name ATP-dependent Lon protease
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
nonsense     interrupting an N-myristoylation site and eliminating a casein kinase II phosphorylation site at the C terminus
Remark(s)
  • CRBN nonsense mutation (R419X) results in a protein lacking 24 amino acids at its C terminus, and mutation affects CRBN function by promoting its autoubiquitination and degradation, leading to CRBN deficiency in cells (PMID: 23983124))
  • widely used proteasome inhibitors can restore levels of CRBN R419X in cells, suggesting a potential therapeutic strategy for this form of mental retardation (PMID: 23983124))