FMR-1 gene

FMR-1 gene

A gene found on the X chromosome. Its exact purpose is unknown, but it is suspected that the gene plays a role in brain development.
Mentioned in: Fragile X Syndrome
Mentioned in ?
References in periodicals archive ?
Affected individuals have >200 CGG repeats and are classified as having a full mutation (FM) which is associated with hypermethylation of an upstream gene promoter region (CpG island) and silencing of FMR-1 gene transcription which results in the absence of the gene product, fragile X mental retardation protein (FMRP).
Absence of expression of the FMR-1 gene in fragile X syndrome.
Normal variation in size of the FMR-1 gene is not associated with variation in intellectual performance.
The severity of fragile X syndrome in an affected individual is usually related to the size of the DNA mutation within the FMR-1 gene. Some intellectually normal people have a fragile X "premutation," or small mutation.
In these, the affected fmr-1 gene had 57, 168, 182, 207, 266, or 285 repeats.