FMR1: Difference between revisions

Latest revision as of 03:26, 13 February 2025

FMR1 Gene[edit]

The FMR1 gene is located on the X chromosome.

The FMR1 gene, also known as the fragile X mental retardation 1 gene, is a gene located on the X chromosome at the position Xq27.3. It is responsible for producing a protein called FMRP (fragile X mental retardation protein), which is essential for normal cognitive development and functioning.

Function[edit]

The FMR1 gene encodes the FMRP, which is an RNA-binding protein. FMRP is involved in the regulation of synaptic plasticity, which is crucial for learning and memory. It plays a role in the transport of mRNA from the nucleus to the cytoplasm and is involved in the regulation of protein synthesis at synapses.

Genetic Structure[edit]

The FMR1 gene contains a region of CGG trinucleotide repeats. In the normal population, this repeat is present in a range of 5 to 44 repeats. However, in individuals with fragile X syndrome, the number of repeats is significantly increased, often exceeding 200 repeats, leading to the silencing of the gene.

Fragile X Syndrome[edit]

FMR1 gene mutations can lead to fragile X syndrome.

Fragile X syndrome is a genetic disorder caused by the expansion of the CGG trinucleotide repeat in the FMR1 gene. This expansion leads to the methylation and silencing of the gene, resulting in the absence or deficiency of FMRP. The lack of FMRP disrupts normal neural development, leading to intellectual disability, behavioral challenges, and various physical features associated with the syndrome.

Premutation Carriers[edit]

Individuals with 55 to 200 CGG repeats in the FMR1 gene are considered premutation carriers. While they do not typically exhibit the full symptoms of fragile X syndrome, they may be at risk for other conditions such as fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).

Related Pages[edit]

This article is a stub related to genetics. You can help WikiMD by expanding it!

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-'''FMR1''' is a human gene that codes for a protein called [[Fragile X Mental Retardation Protein|FMRP]]. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of the FMR1 gene can lead to a variety of genetic disorders, including [[Fragile X syndrome]], [[Fragile X-associated tremor/ataxia syndrome|FXTAS]], and [[Fragile X-associated primary ovarian insufficiency|FXPOI]].
+== FMR1 Gene ==
-== Structure ==
+[[File:Fmr1.jpeg|thumb|right|The FMR1 gene is located on the X chromosome.]]
-The FMR1 gene is located on the long (q) arm of the [[X chromosome]] at position 27.3, from base pair 146,699,183 to base pair 146,744,856. It spans about 38 kilobases and comprises 17 exons. The FMR1 gene produces an mRNA molecule which is approximately 4.4 kilobases long.
-== Function ==
+The '''FMR1''' gene, also known as the '''fragile X mental retardation 1''' gene, is a gene located on the X chromosome at the position Xq27.3. It is responsible for producing a protein called [[FMRP]] (fragile X mental retardation protein), which is essential for normal cognitive development and functioning.
-The FMR1 gene produces the FMRP protein, which is involved in the maturation and elimination of synapses, the specialized junctions through which neurons communicate. FMRP binds to specific mRNA molecules and regulates their translation, the process by which the genetic instructions in mRNA molecules are read to build proteins.
-== Clinical significance ==
+=== Function ===
-Mutations in the FMR1 gene are associated with several [[genetic disorders]]. The most common is Fragile X syndrome, which is characterized by intellectual disability, behavioral and learning challenges, and various physical characteristics. FXTAS and FXPOI are less common conditions that are also caused by changes in the FMR1 gene.
+The FMR1 gene encodes the [[FMRP]], which is an RNA-binding protein. FMRP is involved in the regulation of synaptic plasticity, which is crucial for learning and memory. It plays a role in the transport of mRNA from the nucleus to the cytoplasm and is involved in the regulation of protein synthesis at synapses.
+=== Genetic Structure ===
+The FMR1 gene contains a region of [[CGG trinucleotide repeat]]s. In the normal population, this repeat is present in a range of 5 to 44 repeats. However, in individuals with fragile X syndrome, the number of repeats is significantly increased, often exceeding 200 repeats, leading to the silencing of the gene.
+=== Fragile X Syndrome ===
+[[File:Fmr1.jpeg|thumb|left|FMR1 gene mutations can lead to fragile X syndrome.]]
+Fragile X syndrome is a genetic disorder caused by the expansion of the CGG trinucleotide repeat in the FMR1 gene. This expansion leads to the methylation and silencing of the gene, resulting in the absence or deficiency of FMRP. The lack of FMRP disrupts normal neural development, leading to intellectual disability, behavioral challenges, and various physical features associated with the syndrome.
+=== Premutation Carriers ===
+Individuals with 55 to 200 CGG repeats in the FMR1 gene are considered premutation carriers. While they do not typically exhibit the full symptoms of fragile X syndrome, they may be at risk for other conditions such as fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).
+== Related Pages ==
-== See also ==
 * [[Fragile X syndrome]]
-* [[Fragile X-associated tremor/ataxia syndrome|FXTAS]]
+* [[Trinucleotide repeat disorder]]
-* [[Fragile X-associated primary ovarian insufficiency|FXPOI]]
+* [[X-linked dominant inheritance]]
+* [[Genetic counseling]]
-== References ==
+{{Genetics-stub}}
-<references />
+[[Category:Genetics]]
 [[Category:Genes on human chromosome X]]
-[[Category:Genetic disorders]]
-[[Category:Neurogenetics]]
-{{Genes on human chromosome X}}
-{{Genetic disorders}}
-{{medicine-stub}}