FRAXA - fragile site, folic acid type, rare, fra(X)(q27.3) A Gene

Homo sapiens

Also known as FMR1

Gene ID: 108684022 | Gene type: biological region

About FRAXA

Summary

This biological region is found near the 5' regulatory region of the Fragile X messenger ribonucleoprotein 1 (FMR1) gene on the q arm of chromosome X, and contains a CGG trinucleotide repeat with AGG repeat interruptions. This region is highly polymorphic, and alleles with varying numbers of repeats have been observed. Alleles with repeat sizes of 5-44 tend to show mitotic and meiotic stability, while those with about 45-54 repeats are at a higher risk for instability, but show no phenotype. Individuals with alleles that are expanded to 55-200 repeats are at risk for a number of disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated premature ovarian insufficiency (FXPOI), and adult-onset neurodegenerative disorder. These alleles tend to be unstable upon transmission, with a bias for expansion during maternal transmission. Alleles containing more than 200 CGG repeats are considered full mutation alleles, and are associated with fragile X syndrome. These alleles display hypermethylation of the FMR1 promoter region. It has been shown that the presence of AGG interruptions reduce the risk of repeat instability. [provided by RefSeq, Apr 2022]

Related Diseases

Diseases

Alias

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome	Fragile X Tremor/Ataxia Syndrome
Fxtas

Fragile X Tremor/Ataxia Syndrome

FXTAS

Premature Ovarian Failure 1

Ovarian Failure, Premature	Fmr1-Related Primary Ovarian Insufficiency
Fragile X-Associated Primary Ovarian Insufficiency	POF1
Pofx	Hypergonadotropic Ovarian Failure, X-Linked
Pof	Primary Ovarian Insufficiency, Fragile X-Associated
Primary Ovarian Insufficiency 1	Ovarian Failure Premature
Premature Ovarian Failure, X-Linked	Fragile X Premature Ovarian Failure
Fmr1-Related Premature Ovarian Failure	Familial Premature Ovarian Failure
Idiopathic Familial Premature Ovarian Failure	Fxpoi
X-Linked Hypergonadotropic Ovarian Failure	Hypergonadotropic Ovarian Failure X-Linked
Poi	Premature Ovarian Failure X-Linked
Primary Ovarian Insufficiency	Premature Ovarian Failure-1
Ovarian Failure, Premature, Type 1	Premature Ovarian Failure, Familial
Premature Menopause	Primary Hypogonadism
Turner Syndrome

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Conversion Disorder

Conversion Hysteria Or Reaction	Conversion Hysterical Neurosis
Hysterical Neurosis, Conversion Type	Fnd
Functional Movement Disorder	Functional Neurological Disorder
Dissociative Disorder

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Restless Legs Syndrome

Wed	Willis-Ekbom Disease
Restless Leg Syndrome	Ekbom Syndrome
Wittmaack-Ekbom Syndrome	Willis Ekbom Disease
Ekbom'S Syndrome	Rls
Restless Legs	Restless Legs Syndrome, Susceptibility To

Dyslexia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05011	FMR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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