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

Also Known as FMR1

Species: Homo sapiens

Gene Type: biological region
Gene ID: 108684022

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

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