FMR1 gene and Premature Ovarian Failure (POF)

The protein encoded by the Fragile X mental retardation gene (FMR1 OMIM 309550) binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm.

A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome.

A FMR1 gene with 55-199 repeats is said to have a “premutation” and a gene with 200 or more repeats is said to have a “full mutation.” Premutations passed on in an egg may or may not develop into full mutations.

Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1).

Aliases 

FMRP, FRAXA, MGC87458, POF, POF1

Chromosomal Locations 

Xq27.3