Fragile X syndrome.
The fragile X syndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3. An expansion of a CGG repeat in the 5' end of the fragile X mental retardation 1 (FMR1) gene results in the absence of the encoded fragile X mental retardation protein, known to play an important role in RNA processing and probably the developmental maturation of brain neurons.
Chakrabarti
L
L
Biochemistry Department, Oxford University, Oxford, UK.
Davies
K E
KE
D000818:Animals; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D015870:Gene Expression / Q000502:physiology; D006801:Humans; D051379:Mice; D008957:Models, Genetic; D009419:Nerve Tissue Proteins / Q000235:genetics; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics; D016601:RNA-Binding Proteins; D018911:Trinucleotide Repeats / Q000235:genetics; D014960:X Chromosome
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human; C497684:Fmr1 protein, mouse