XB-FEAT-977112

fmr1

This is the community wiki page for the gene fmr1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

3.31.2022

the gene name for XB-GENEPAGE-977112 changed from 'fragile X mental retardation 1' to 'FMRP translational regulator 1'.

This follows a request to the NCBI to remove 'retardation' or any 'R' referencing retardation be removed from FMRP and any other terminology linked to fragile x in the gene database(s) as this is outdated and offensive terminology.

See: "The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations" : [1]. This article is written on behalf of 17 fragile x family associations calling for the removal of 'retardation' as discriminatory and stigmatic.

5.3.2022

After further consideration the HGNC and UniProt have updated the gene name from "FMRP translational regulator 1" to "Fragile X messenger ribonucleoprotein 1"

this name keeps the relationship to the disease phenotypein humans ( Fragile X) and the 'r' refers to the molecular function.

summary for human FMR1 from NCBI

The protein encoded by this gene 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. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]