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Protein-coding gene in the species Homo sapiens
encoded by the ELAC2 gene. on chromosome 17. It is an endonuclease thought to be involved in mitochondrial tRNA maturation, The ELAC2 gene encodes a protein
ELAC2
Protein-coding gene in the species Homo sapiens
et al. (2004). "Mutational analysis of susceptibility genes RNASEL/HPC1, ELAC2/HPC2, and MSR1 in sporadic prostate cancer". Genes Chromosomes Cancer. 39
MSR1
P56537 4860 EIPR1 HGNC:12383; Q53HC9 4861 ELAC1 HGNC:14197; Q9H777 4862 ELAC2 HGNC:14198; Q9BQ52 4863 ELANE HGNC:3309; P08246 4864 ELAPOR1 HGNC:29618;
List of human protein-coding genes 3
List_of_human_protein-coding_genes_3
Genetic disorder
COXPD17 is caused by homozygous or compound heterozygous mutations in the ELAC2 gene that functions as a mitochondrial tRNA processing gene. It follows
Combined oxidative phosphorylation defect type 17
Combined_oxidative_phosphorylation_defect_type_17
Enzymes which cleave a nucleotide chain
mature and functional RNA species. Endonucleases like RNase P and tRNase Z (ELAC2), shape precursor tRNAs into mature, functional tRNAs, crucial for accurate
Endonuclease
Protein that acts to slow or prevent metastases
located in the regions of chromosomal loss include MAP2K4, LLGL1, FBLN1, ELAC2, ALDH3A2, ALDH3A1, SHMT1, ARSA, WNT7B, TNFRSF13B, UPK3A, TYMP, RASD1, PEMT
Metastasis_suppressor
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ELAC2
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