Aliases for ERAL1 Gene
External Ids for ERAL1 Gene
Previous GeneCards Identifiers for ERAL1 Gene
The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
GeneCards Summary for ERAL1 Gene
ERAL1 (Era Like 12S Mitochondrial RRNA Chaperone 1) is a Protein Coding gene. Diseases associated with ERAL1 include Perrault Syndrome 6 and Perrault Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is GTPBP3.
UniProtKB/Swiss-Prot Summary for ERAL1 Gene
Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly.