Gene Symbol | ELAC2 |
Entrez Gene ID | 60528 |
Full Name | elaC ribonuclease Z 2 |
Synonyms | COXPD17,ELC2,HPC2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3); Combined oxidative phosphorylation deficiency 17, 615440 (3) |