Aliases for FXR1 Gene
External Ids for FXR1 Gene
Previous GeneCards Identifiers for FXR1 Gene
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]
GeneCards Summary for FXR1 Gene
FXR1 (FMR1 Autosomal Homolog 1) is a Protein Coding gene. Diseases associated with FXR1 include Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures and Myopathy, Congenital Proximal, With Minicore Lesions. Among its related pathways are RNA transport and Translational Control. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is FXR2.
UniProtKB/Swiss-Prot Summary for FXR1 Gene
RNA-binding protein required for embryonic and postnatal development of muscle tissue (PubMed:30770808). May regulate intracellular transport and local translation of certain mRNAs (By similarity).