FRAXE - fragile site, folic acid type, rare, fra(X)(q28) E Gene

Homo sapiens

Also known as FMR2

Gene ID: 109461475 | Gene type: biological region

About FRAXE

Summary

This biological region is found near the 5' regulatory region of the AF4/FMR2 family member 2 (AFF2) gene on the q arm of the X chromosome. This region is a rare folate-sensitive fragile site and contains a highly polymorphic (CCG)n repeat, with most normal alleles containing less than 25 triplet repeat units. Expansion of the CCG/CGG repeat to copy numbers greater than 200 has been observed and causes fragility at this site. Hypermethylation of a CpG island near the expanded allele can lead to transcriptional silencing of the AFF2 gene. Intellectual disability has been observed in some individuals with the expanded allele, but a wide range of clinical manifestations have also been reported. [provided by RefSeq, Dec 2016]

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked 109

Fraxe Syndrome	Fragile Xe Syndrome
Mental Retardation, X-Linked, Fraxe Type	XLID109
Mrx109	Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
Fraxe Mental Retardation Syndrome	X-Linked Intellectual Developmental Disorder 109
Fraxe Intellectual Disability	Fraxe
Mental Retardation, X-Linked 109	Fragile Site On Chromosome Xq28
Fragile Site, Folic Acid Type	X-Linked Intellectual Disability Associated With Fragile Site Fraxe
Fraxe Intellectual Deficit	Intellectual Disability Associated With Fragile Site Fraxe

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-RS00429	AFF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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