Aliases for FRG1 Gene
External Ids for FRG1 Gene
Previous GeneCards Identifiers for FRG1 Gene
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]
GeneCards Summary for FRG1 Gene
FRG1 (FSHD Region Gene 1) is a Protein Coding gene. Diseases associated with FRG1 include Facioscapulohumeral Muscular Dystrophy 1 and Muscular Dystrophy. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is ENSG00000273748.
UniProtKB/Swiss-Prot Summary for FRG1 Gene
Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B.