The FMR1 protein
The family mental retardation (FMR1) protein is normally expressed in brain and testes. It is encoded by the FMR1 gene. Amplification of the CGG region to a repeat number greater than 200 causes methylation of the CpG is land and prevents the FMR1 protein from being expressed. This defect is sufficient to cause the fragile X-associated mental retardation syndrome.
Is expressed in fragile X-associated mental retardation
Is normally found in brain and ovaries
When defective, is not sufficient to cause the fragile X-associated mental retardation syndrome
Is coded by the FMR1 gene which has the (5′-CGG-3′) n repeat segments