ELAC2 Antibody

1. This study describes the cardiac phenotype and outcome of ELAC2 mutation in Infantile Cardiomyopathy PMID: 28441660
2. ELAC2 rs11545302 polymorphism was associated with PSA > 20 and rs4792311 was associated with TNM > 2. PMID: 27318894
3. A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement PMID: 27769300
4. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. PMID: 23849775
5. results indicate that ELAC2 functions as a tRNase Z in human mitochondria and suggest that mt-tRNase Z preferentially cleaves molecules already processed by the proteinaceous mtRNase P PMID: 21593607
6. ELAC2 and PTCD1 affect the 3' end processing of tRNAs. PMID: 21857155
7. analysis of dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation PMID: 21559454
8. Data describe polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in an Indian population. PMID: 20119870
9. ELAC2 polymorphisms are associated with prostate cancer. PMID: 20231859
10. Our findings corroborate the involvement of ELAC2, MSR1, and RNASEL in the etiology of prostate cancer even in individuals without a family history. PMID: 20086112
11. variation in the putative prostate cancer susceptibility gene ELAC2 contributes to the elevated risk of prostate cancer in Afro-Caribbean males from Tobago PMID: 12384782
12. Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer PMID: 12515253
13. Although the Leu217 and Thr541 variants of ELAC2 are less common in Japanese than in Caucasians, both variants confer significantly increased risk of prostate cancer in Japanese. PMID: 12522685
14. ELAC2 interacts with the gamma-tubulin complex and perturbation of ELAC2 might promote tumorigenesis through irregular cell division PMID: 12569551
15. There is no evidence that either ELAC2 polymorphism is associated with prostate cancer or PSA level. PMID: 12783937
16. polymorphism of the ELAC2 gene is associated with prostatic cancer risk in Japanese men PMID: 12949798
17. When considering joint genotypes, white men homozygous for the Leu217 variant on an Ala541/Ala541 background had an increased risk of prostate cancer [odds ratio (OR)=1.84; 95% confidence interval (CI), 1.11-3.06]. PMID: 14504198
18. ELAC2 has a role in prostate cancer PMID: 14625808
19. Thr allele at 541 in HPC2/ELAC2 has strong significance in the predisposition of sporadic Pca in Japan. PMID: 15368467
20. Single nucleotide polymorphisms associated with hereditary prostate cancer. PMID: 16114055
21. candidate prostate cancer susceptibility gene ELAC2 potentiates TGF-beta/Smad-induced transcriptional responses PMID: 16636667
22. The oncogenic role of HPC2 in human primary breast carcinomas is determined by its capacity to inhibit INK4a/ARF proteins(p16INK4a, p14ARF, or h-TERT) or to induce telomerase activity. PMID: 17145810
23. Common SNPs and haplotypes of ELAC2 are associated with risk of aggressive prostate cancer. PMID: 18375959
24. Changes in K(M) observed with some of the substitutions suggest contacts between tRNase Z and substrate tRNA in this region, and changes in tRNA structure provide an additional basis for interpretation of the kinetic effects.[tRNase Z] PMID: 18421255
25. HPC2/ELAC2 and RNASEL may play a role, however minor, in prostate cancer risk among African American men. PMID: 18767027
26. The findings reveal that 3' end processing is a limiting step for defective tRNA maturation and demonstrate that overexpression of ELAC2 can promote defective tRNA 3' processing in vivo. PMID: 19555350
27. The present data suggest the possibility that human cytosolic tRNase ZL modulates gene expression through a subset of microRNAs in the cells. PMID: 19751732
28. Observational study and meta-analysis of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 15824169
29. ELAC2 harbors mutations (including a frameshift and a nonconservative missense change) that segregate with prostate cancer in two Utah pedigrees PMID: 11175785

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HGNC: 14198

OMIM: 176807

KEGG: hsa:60528

STRING: 9606.ENSP00000337445

UniGene: Hs.434232