FMR1
FMR1
FMR1 (pronounced as: F-M-R-One), also known as the Fragile X Mental Retardation 1 gene, is a human gene that codes for a protein called FMRP, or Fragile X Mental Retardation Protein.
Etymology
The name FMR1 is an abbreviation of Fragile X Mental Retardation 1. The term "Fragile X" refers to the appearance of the X chromosome in individuals with certain genetic mutations, where it appears to be broken or "fragile" under a microscope. The "1" indicates that this is the first gene associated with this condition to be identified.
Function
The FMR1 gene provides instructions for making a protein called FMRP. This protein, most commonly found in the brain, helps regulate the production of other proteins and plays a role in the development of synapses, which are critical for relaying nerve impulses.
Related Terms
- FMRP: The protein produced by the FMR1 gene.
- Fragile X syndrome: A genetic condition resulting from a mutation of the FMR1 gene, leading to intellectual disability, behavioral and learning challenges and various physical characteristics.
- Premutation: A change in the FMR1 gene that can increase the risk of developing certain medical conditions.
- Full mutation: A further change in the FMR1 gene that can result in Fragile X syndrome.
- X chromosome: The sex chromosome associated with the FMR1 gene. Females have two X chromosomes and males have one X and one Y chromosome.
See Also
External links
- Medical encyclopedia article on FMR1
- Wikipedia's article - FMR1
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