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FMR1 fragile X messenger ribonucleoprotein 1

Gene ID: 2332, updated on 22-Jan-2023
Gene type: protein coding
Also known as: POF; FMRP; POF1; FRAXA

Summary

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-12-16)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-16)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq27.3
Sequence:
Chromosome: X; NC_000023.11 (147911919..147951125)
Total number of exons:
17

Links

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