“ELAC2”的意思、由来-开放百科全书

Zinc phosphodiesterase ELAC protein 2 is an enzyme that in humans is encoded by the ELAC2 gene.^[1]^[2]^[3] on chromosome 17. It is an endonuclease thought to be involved in mitochondrial tRNA maturation,

Function

The ELAC2 gene encodes a protein that is 92 kDa in size and is localized to the mitochondrion ^[4] and the nucleus. The ELAC2 protein is a zinc phosphodiesterase, which is known to show tRNA 3'-processing endonuclease activity inside the mitochondria. Mitochondria contain their own pool of tRNAs that are involved in the protein translation of 13 subunits of the respiratory chain that are encoded by the mitochondrial genome. ELAC2 functions in the maturation of tRNA by removing a 3'-trailer (extra 3' nucleotides) from tRNA precursors, generating 3' termini of tRNAs.

The reaction leaves a 3'-hydroxy group is left at the tRNA end, and a 5'-phosphoryl group at the cleaved, trailing end. The reaction requires zinc ions as co-factors.

Clinical significance

Variants of the ELAC2 gene are associated with prostate cancer, hereditary 2 (HPC2), a condition associated with familial cancer of the prostate.^[5]^[6] Multiple mutations including truncation and missense mutations are known to cause the disease from multiple families based on linkage analysis and positional cloning.^[6]

In addition, mutations in ELAC2 are known to cause combined oxidative phosphorylation deficiency 17 (COXPD17), a rare autosomal recessive disorder of mitochondrial functions characterized by severe hypertrophic cardiomyopathy.^[7]

References

1. ^{{cite journal | vauthors = Rebbeck TR, Walker AH, Zeigler-Johnson C, Weisburg S, Martin AM, Nathanson KL, Wein AJ, Malkowicz SB | title = Association of HPC2/ELAC2 Genotypes and Prostate Cancer | journal = Am J Hum Genet | volume = 67 | issue = 4 | pages = 1014–9 |date=Oct 2000 | pmid = 10986046 | pmc = 1287872 | doi = 10.1086/303096 }}
2. ^{{cite journal | vauthors = Noda D, Itoh S, Watanabe Y, Inamitsu M, Dennler S, Itoh F, Koike S, Danielpour D, ten Dijke P, Kato M | title = ELAC2, a putative prostate cancer susceptibility gene product, potentiates TGF-beta/Smad-induced growth arrest of prostate cells | journal = Oncogene | volume = 25 | issue = 41 | pages = 5591–600 |date=September 2006 | pmid = 16636667 | pmc = | doi = 10.1038/sj.onc.1209571 }}
3. ^{{cite web | title = Entrez Gene: ELAC2 elaC homolog 2 (E. coli)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=60528| accessdate = }}
4. ^{{cite journal |vauthors=Brzezniak LK, Bijata M, Szczesny RJ, Stepien PP |title=Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs |journal=RNA Biol |volume=8 |issue=4 |pages=616–26 |year=2011 |pmid=21593607 |doi=10.4161/rna.8.4.15393 |url=}}
5. ^{{cite journal |vauthors=Wang L, McDonnell SK, Elkins DA, Slager SL, Christensen E, Marks AF, Cunningham JM, Peterson BJ, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ, Thibodeau SN |title=Role of HPC2/ELAC2 in hereditary prostate cancer |journal=Cancer Res. |volume=61 |issue=17 |pages=6494–9 |year=2001 |pmid=11522646 |doi= |url=}}
6. ^¹{{cite journal |vauthors=Rökman A, Ikonen T, Mononen N, Autio V, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Schleutker J |title=ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer |journal=Cancer Res. |volume=61 |issue=16 |pages=6038–41 |year=2001 |pmid=11507049 |doi= |url=}}
7. ^{{cite journal |vauthors=Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H |title=ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy |journal=Am. J. Hum. Genet. |volume=93 |issue=2 |pages=211–23 |year=2013 |pmid=23849775 |pmc=3738821 |doi=10.1016/j.ajhg.2013.06.006 |url=}}

Function

Clinical significance

References

Further reading