What does FMR1 gene stand for?
What does FMR1 gene stand for?
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 causes FMR1?
Fragile X results from a change or mutation in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, which is found on the X chromosome. The gene normally makes a protein, called FMRP, that is important for creating and maintaining connections between cells in the brain and nervous system.
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).
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 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.
Does everyone have the FMR1 gene?
2. The gene responsible for Fragile X is called FMR1 and is found on the X chromosome. Everyone has the FMR1 gene on their X chromosome.
Where is the FMR1 gene located?
the X-chromosome
FMR1 is a cause of fragile X syndrome and is the most common genetic linkage associated with autism spectrum disorders (Kaufmann et al., 2017). FMR1 is located on the X-chromosome and encodes the fragile X mental retardation protein (FMRP).
Where is FMR1 gene located?
Who discovered FMR1 gene?
The Responsible Gene: FMR1 The discovery by Lubs (1969) of the Fragile X mental retardation 1 gene (FMR1) brought some clarity to the genetics of the fragile X. Lubs obtained data on three generations of a family in which four males had significant intellectual disability.
Where is FMR1 located?
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.