Aliases for ELAC2 Gene
External Ids for ELAC2 Gene
Previous GeneCards Identifiers for ELAC2 Gene
The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
GeneCards Summary for ELAC2 Gene
ELAC2 (ElaC Ribonuclease Z 2) is a Protein Coding gene. Diseases associated with ELAC2 include Combined Oxidative Phosphorylation Deficiency 17 and Prostate Cancer, Hereditary, 2. Among its related pathways are tRNA processing and rRNA processing in the mitochondrion. Gene Ontology (GO) annotations related to this gene include 3'-tRNA processing endoribonuclease activity. An important paralog of this gene is ELAC1.
UniProtKB/Swiss-Prot Summary for ELAC2 Gene
Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly (PubMed:24703694).