FXR1 Chromosome 3
FMR1 autosomal homolog 1
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What This Gene Does
The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Intellectual disability
Myopathy
congenital proximal
with minicore lesions
congenital
with respiratory insufficiency and bone fractures
Key Variants
RS754901294
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1322244059
Pathogenic
Myopathy, congenital proximal, with minicore lesions
Health Risk
RS1577005361
Pathogenic
Myopathy, congenital, with respiratory insufficiency and bone fractures
Health Risk
RS769011065
Pathogenic
Myopathy, congenital proximal, with minicore lesions
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754901294 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1322244059 | Health Risk | Pathogenic | Myopathy, congenital proximal, with minicore lesions |
| RS1577005361 | Health Risk | Pathogenic | Myopathy, congenital, with respiratory insufficiency and bone fractures |
| RS769011065 | Health Risk | Pathogenic | Myopathy, congenital proximal, with minicore lesions |