What does FMR1 gene do?
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What does FMR1 gene do?
The FMR1 gene provides instructions for making a protein called FMRP. This protein is present in many tissues, including the brain, testes, and ovaries. In the brain, it may play a role in the development of connections between nerve cells (synapses), where cell-to-cell communication occurs.
What are FMR1 related disorders?
FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI).
Does everyone have an FMR1 gene?
Males and females with 55 to 200 repeats of the CGG segment are said to have an FMR1 gene premutation. Most people with this premutation are intellectually normal. In some cases, however, individuals with a premutation have lower than normal amounts of FMRP.
What is FMR1 mutation?
Fragile X syndrome and its associated conditions are caused by changes (mutations) in the FMR1 gene found on the X chromosome. This mutation affects how the body makes a protein called FMRP. The mutation causes the body to make only a little bit or none of the protein, which can cause the symptoms of Fragile X.
Where is FMR1?
FMR1 (Fragile X Mental Retardation 1) is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.
What does FMR1 stand for?
Where is FMR1 located?
the X-chromosome
FMR1 is located on the X-chromosome and encodes the fragile X mental retardation protein (FMRP). FMRP has been shown to bind mRNA and regulate translation of specific synaptic proteins.
Where is the FMR1 gene located on the chromosome?
FMR1 is a gene located on the X chromosome that produces a protein called FMRP needed for proper cell function.
What protein is made by the FMR1 gene?
fragile X messenger ribonucleoprotein
FMR1 (Fragile X Mental Retardation 1) is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.
