ELAC2
Description
The ELAC2 (elaC ribonuclease Z 2) is a protein-coding gene located on chromosome 17.
ELAC2 is a gene located on chromosome 17 that encodes a 92 kDa protein involved in mitochondrial tRNA maturation. This enzyme, known as zinc phosphodiesterase ELAC protein 2, is localized to the mitochondrion and nucleus. It functions as a tRNA 3'-processing endonuclease, removing extra nucleotides from tRNA precursors to create mature tRNA molecules. This activity requires zinc ions as co-factors. ELAC2 variants have been linked to hereditary prostate cancer 2 (HPC2), a familial cancer predisposition syndrome. Mutations in the gene, including truncations and missense mutations, have been identified as causal for HPC2 in multiple families.
ELAC2 is also known as COXPD17, ELC2, HPC2.
