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.
These premutations are unstable and can expand in size when passed from mother to child If the premutation expands to the size of a full mutation, the FMR-1 gene "turns off" and does not work properly.
In these, the affected fmr-1 gene had 57, 168, 182, 207, 266, or 285 repeats.