Unknown General deec1d3c

The FMR1 protein

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

High-Yield Explanation

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.

The FMR1 protein

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