LYCOS RETRIEVER 
Fragile X Syndrome: Fmr1 Gene
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Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.
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The figure above shows the most common fragile X mutation- an expansion of extra DNA within a specific component of the FMR1 gene. In the premutation, the expansion is relatively small... in the full mutation the expansion is quite large and is usually accompanied by abnormal methylation. The presence of abnormal methylation leads to decreased production or absence of the FMR1 gene's protein product, called FMRP. The specific function of FMRP in the human brain is currently under study; current evidence suggests it may be involved in the regulation of proteins produced by other genes.
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Fragile X is a group of genetic disorders that can affect individuals and their families in many ways because they are all caused by changes in the same gene, the FMR1 gene. The group of Fragile X conditions include:
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Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP. In normal individuals, FMRP binds and facilitates the translation of a number of essential neuronal RNAs. In fragile X patients... these RNAs are not translated into proteins.
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A specific genetic test (polymerase chain reaction [PCR]) can now be performed to diagnose fragile X syndrome. This test looks for an expanded mutation (called a triplet repeat) in the FMR1 gene.
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Fmr1 Gene