FMR1

Chr X

fragile X messenger ribonucleoprotein 1

Also known as: FMRP, FRAXA, POF, POF1

NCBI Gene: 2332ENSG00000102081UniProt: Q06787

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFragile X syndrome
UniProtFragile X tremor/ataxia syndrome
UniProtPremature ovarian failure 1

Clinical highlights

Gene-disease validity (ClinGen)
fragile X syndrome · XLDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.
8
Active trials
344
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
Multiple*
Mechanism· G2P
📖
GeneReview available — FMR1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.647
Z-score 3.73
OE 0.20 (0.10–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.97Z-score
OE missense 0.47 (0.41–0.55)
118 obs / 250.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.20 (0.10–0.42)
0≤0.351.4
Missense OE?0.47 (0.41–0.55)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 5 / 25.2Missense obs/exp: 118 / 250.4Syn Z: 1.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FMR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
FMR1 Gene Premutation

Assessment of Ovarian Reserve in Patients With Fragile X Premutation

RECRUITING
NCT07039734Assistance Publique - Hôpitaux de ParisStarted 2025-07-04
collection of data from medical records
Primary Ovarian Insufficiency

Investigation of Copy Number Variations and Genetic Variants in POI

RECRUITING
NCT05327283Ospedale Policlinico San MartinoStarted 2012-01-31
Fragile X Syndrome (FXS)Autism Spectrum Disorder

Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder

RECRUITING
NCT06677866Phase NABambino Gesù Hospital and Research InstituteStarted 2022-09-01
Cognitive behavioral therapyWaiting List
Fragile X Syndrome

Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome

RECRUITING
NCT06261502Phase PHASE2Université de SherbrookeStarted 2025-09-01
CBD Oral SolutionPlacebo
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, IncludingSickle Cell DiseaseCystic Fibrosis

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

RECRUITING
NCT06147414Assistance Publique - Hôpitaux de ParisStarted 2024-10-23
Blood sample
Premature Ovarian Insufficiency

Genetic Variants in Idiopathic Premature Ovarian Insufficiency

NOT YET RECRUITING
NCT07587853Abdurrahman Hamdi İnanStarted 2026-06-10
Fragile X Syndrome (FXS)Creatine Transporter Deficiency

Optical Imaging in X-linked Disorders.

RECRUITING
NCT06868979Phase NAHospices Civils de LyonStarted 2026-03-30
Clinical assessmentParental questionnairesCognitive assessment
Fragile X SyndromeAutism Spectrum DisorderAutistic Disorder

Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders

RECRUITING
NCT06227780Phase NAChildren's Hospital Medical Center, CincinnatiStarted 2023-05-24
Alpha Auditory EntrainmentSham

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients