ELAC2: Difference between revisions

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{{Infobox_gene}}
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'''Zinc phosphodiesterase ELAC protein 2''' is an [[enzyme]] that in humans is encoded by the ''ELAC2'' [[gene]].<ref name="pmid10986046">{{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 }}</ref><ref name="pmid16636667">{{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 }}</ref><ref name="entrez">{{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 = }}</ref> on [[chromosome 17]]. It is an [[endonuclease]] thought to be involved in [[mitochondrial]] [[tRNA]] maturation,
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== Function ==
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The ELAC2 gene encodes a protein that is 92 kDa in size and is localized to the [[mitochondrion]] <ref>{{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=}}</ref> and the [[Cell nucleus|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 [[tRNA]]s 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' [[nucleotide]]s) from tRNA precursors, generating 3' termini of tRNAs.
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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 [[Cofactor (biochemistry)|co-factors]].
 
== Clinical significance ==


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Variants of the ELAC2 gene are associated with [[prostate cancer, hereditary 2]] (HPC2), a condition associated with familial cancer of the prostate.<ref>{{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=}}</ref><ref name="ReferenceA">{{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=}}</ref> Multiple mutations including truncation and [[missense mutations]] are known to cause the disease from multiple families based on [[linkage analysis]] and [[positional cloning]].<ref name="ReferenceA"/>
{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = ElaC homolog 2 (E. coli)
| HGNCid = 14198
| Symbol = ELAC2
| AltSymbols =; HPC2; ELC2; FLJ10530; FLJ36693; FLJ42848
| OMIM = 605367
| ECnumber = 
| Homologene = 6403
| MGIid = 1890496
| GeneAtlas_image1 = PBB_GE_ELAC2_201767_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004519 |text = endonuclease activity}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0008033 |text = tRNA processing}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 60528
    | Hs_Ensembl = ENSG00000006744
    | Hs_RefseqProtein = NP_060597
    | Hs_RefseqmRNA = NM_018127
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 17
    | Hs_GenLoc_start = 12836435
    | Hs_GenLoc_end = 12862049
    | Hs_Uniprot = Q9BQ52
    | Mm_EntrezGene = 68626
    | Mm_Ensembl = ENSMUSG00000020549
    | Mm_RefseqmRNA = NM_023479
    | Mm_RefseqProtein = NP_075968
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 64795286
    | Mm_GenLoc_end = 64818264
    | Mm_Uniprot = Q5SSM8
  }}
}}
'''ElaC homolog 2 (E. coli)''', also known as '''ELAC2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ELAC2 elaC homolog 2 (E. coli)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=60528| accessdate = }}</ref>


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]].<ref>{{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=}}</ref>
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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
*{{cite journal  | author=Satijn DP, Gunster MJ, van der Vlag J, ''et al.'' |title=RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor. |journal=Mol. Cell. Biol. |volume=17 |issue= 7 |pages= 4105-13 |year= 1997 |pmid= 9199346 |doi=  }}
*{{cite journal  | vauthors=Satijn DP, Gunster MJ, van der Vlag J |title=RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor |journal=Mol. Cell. Biol. |volume=17 |issue= 7 |pages= 4105–13 |year= 1997 |pmid= 9199346 |doi=  10.1128/mcb.17.7.4105| pmc=232264  |display-authors=etal}}
*{{cite journal  | author=Sewalt RG, Gunster MJ, van der Vlag J, ''et al.'' |title=C-Terminal binding protein is a transcriptional repressor that interacts with a specific class of vertebrate Polycomb proteins. |journal=Mol. Cell. Biol. |volume=19 |issue= 1 |pages= 777-87 |year= 1999 |pmid= 9858600 |doi=  }}
*{{cite journal  | vauthors=Sewalt RG, Gunster MJ, van der Vlag J |title=C-Terminal Binding Protein Is a Transcriptional Repressor That Interacts with a Specific Class of Vertebrate Polycomb Proteins |journal=Mol. Cell. Biol. |volume=19 |issue= 1 |pages= 777–87 |year= 1999 |pmid= 9858600 |doi=  | pmc=83934  |display-authors=etal}}
*{{cite journal  | author=Rebbeck TR, Walker AH, Zeigler-Johnson C, ''et al.'' |title=Association of HPC2/ELAC2 genotypes and prostate cancer. |journal=Am. J. Hum. Genet. |volume=67 |issue= 4 |pages= 1014-9 |year= 2000 |pmid= 10986046 |doi= }}
*{{cite journal  | vauthors=Tavtigian SV, Simard J, Teng DH |title=A candidate prostate cancer susceptibility gene at chromosome 17p |journal=Nat. Genet. |volume=27 |issue= 2 |pages= 172–80 |year= 2001 |pmid= 11175785 |doi= 10.1038/84808 |display-authors=etal}}
*{{cite journal  | author=Tavtigian SV, Simard J, Teng DH, ''et al.'' |title=A candidate prostate cancer susceptibility gene at chromosome 17p. |journal=Nat. Genet. |volume=27 |issue= 2 |pages= 172-80 |year= 2001 |pmid= 11175785 |doi= 10.1038/84808 }}
*{{cite journal  | vauthors=Xu J, Zheng SL, Carpten JD |title=Evaluation of Linkage and Association of HPC2/ELAC2 in Patients with Familial or Sporadic Prostate Cancer |journal=Am. J. Hum. Genet. |volume=68 |issue= 4 |pages= 901–11 |year= 2001 |pmid= 11254448 |doi=10.1086/319513  | pmc=1275644  |display-authors=etal}}
*{{cite journal  | author=Xu J, Zheng SL, Carpten JD, ''et al.'' |title=Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer. |journal=Am. J. Hum. Genet. |volume=68 |issue= 4 |pages= 901-11 |year= 2001 |pmid= 11254448 |doi=  }}
*{{cite journal  | vauthors=Rökman A, Ikonen T, Mononen N |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=  |display-authors=etal}}
*{{cite journal  | author=Rökman A, Ikonen T, Mononen N, ''et al.'' |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=  }}
*{{cite journal  | vauthors=Wang L, McDonnell SK, Elkins DA |title=Role of HPC2/ELAC2 in hereditary prostate cancer |journal=Cancer Res. |volume=61 |issue= 17 |pages= 6494–9 |year= 2001 |pmid= 11522646 |doi=  |display-authors=etal}}
*{{cite journal  | author=Wang L, McDonnell SK, Elkins DA, ''et al.'' |title=Role of HPC2/ELAC2 in hereditary prostate cancer. |journal=Cancer Res. |volume=61 |issue= 17 |pages= 6494-9 |year= 2001 |pmid= 11522646 |doi= }}
*{{cite journal  | vauthors=Shea PR, Ferrell RE, Patrick AL |title=ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago |journal=Hum. Genet. |volume=111 |issue= 4–5 |pages= 398–400 |year= 2002 |pmid= 12384782 |doi= 10.1007/s00439-002-0816-1 |display-authors=etal}}
*{{cite journal  | author=Shea PR, Ferrell RE, Patrick AL, ''et al.'' |title=ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago. |journal=Hum. Genet. |volume=111 |issue= 4-5 |pages= 398-400 |year= 2002 |pmid= 12384782 |doi= 10.1007/s00439-002-0816-1 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Camp NJ, Tavtigian SV |title=Meta-Analysis of Associations of the Ser217Leu and Ala541Thr Variants in ELAC2 (HPC2) and Prostate Cancer |journal=Am. J. Hum. Genet. |volume=71 |issue= 6 |pages= 1475–8 |year= 2003 |pmid= 12515253 |doi=10.1086/344516  | pmc=378598  }}
*{{cite journal  | author=Camp NJ, Tavtigian SV |title=Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer. |journal=Am. J. Hum. Genet. |volume=71 |issue= 6 |pages= 1475-8 |year= 2003 |pmid= 12515253 |doi= }}
*{{cite journal  | vauthors=Fujiwara H, Emi M, Nagai H |title=Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series |journal=J. Hum. Genet. |volume=47 |issue= 12 |pages= 641–8 |year= 2003 |pmid= 12522685 |doi= 10.1007/s100380200099 |display-authors=etal}}
*{{cite journal  | author=Fujiwara H, Emi M, Nagai H, ''et al.'' |title=Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. |journal=J. Hum. Genet. |volume=47 |issue= 12 |pages= 641-8 |year= 2003 |pmid= 12522685 |doi= 10.1007/s100380200099 }}
*{{cite journal  | vauthors=Korver W, Guevara C, Chen Y |title=The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex |journal=Int. J. Cancer |volume=104 |issue= 3 |pages= 283–8 |year= 2003 |pmid= 12569551 |doi= 10.1002/ijc.10945 |display-authors=etal}}
*{{cite journal  | author=Korver W, Guevara C, Chen Y, ''et al.'' |title=The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex. |journal=Int. J. Cancer |volume=104 |issue= 3 |pages= 283-8 |year= 2003 |pmid= 12569551 |doi= 10.1002/ijc.10945 }}
*{{cite journal  | vauthors=Shi Y, Sawada J, Sui G |title=Coordinated histone modifications mediated by a CtBP co-repressor complex |journal=Nature |volume=422 |issue= 6933 |pages= 735–8 |year= 2003 |pmid= 12700765 |doi= 10.1038/nature01550 |display-authors=etal}}
*{{cite journal  | author=Shi Y, Sawada J, Sui G, ''et al.'' |title=Coordinated histone modifications mediated by a CtBP co-repressor complex. |journal=Nature |volume=422 |issue= 6933 |pages= 735-8 |year= 2003 |pmid= 12700765 |doi= 10.1038/nature01550 }}
*{{cite journal  | vauthors=Takaku H, Minagawa A, Takagi M, Nashimoto M |title=A candidate prostate cancer susceptibility gene encodes tRNA 3′ processing endoribonuclease |journal=Nucleic Acids Res. |volume=31 |issue= 9 |pages= 2272–8 |year= 2003 |pmid= 12711671 |doi=10.1093/nar/gkg337  | pmc=154223  }}
*{{cite journal  | author=Takaku H, Minagawa A, Takagi M, Nashimoto M |title=A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease. |journal=Nucleic Acids Res. |volume=31 |issue= 9 |pages= 2272-8 |year= 2003 |pmid= 12711671 |doi=  }}
*{{cite journal  | vauthors=Severi G, Giles GG, Southey MC |title=ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer |journal=J. Natl. Cancer Inst. |volume=95 |issue= 11 |pages= 818–24 |year= 2003 |pmid= 12783937 |doi=10.1093/jnci/95.11.818 |display-authors=etal}}
*{{cite journal  | author=Severi G, Giles GG, Southey MC, ''et al.'' |title=ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer. |journal=J. Natl. Cancer Inst. |volume=95 |issue= 11 |pages= 818-24 |year= 2003 |pmid= 12783937 |doi= }}
*{{cite journal  | vauthors=Takahashi H, Lu W, Watanabe M |title=Ser217Leu polymorphism of the HPC2/ELAC2 gene associated with prostatic cancer risk in Japanese men |journal=Int. J. Cancer |volume=107 |issue= 2 |pages= 224–8 |year= 2003 |pmid= 12949798 |doi= 10.1002/ijc.11347 |display-authors=etal}}
*{{cite journal  | author=Takahashi H, Lu W, Watanabe M, ''et al.'' |title=Ser217Leu polymorphism of the HPC2/ELAC2 gene associated with prostatic cancer risk in Japanese men. |journal=Int. J. Cancer |volume=107 |issue= 2 |pages= 224-8 |year= 2003 |pmid= 12949798 |doi= 10.1002/ijc.11347 }}
*{{cite journal  | vauthors=Stanford JL, Sabacan LP, Noonan EA |title=Association of HPC2/ELAC2 polymorphisms with risk of prostate cancer in a population-based study |journal=Cancer Epidemiol. Biomarkers Prev. |volume=12 |issue= 9 |pages= 876–81 |year= 2003 |pmid= 14504198 |doi= |display-authors=etal}}
*{{cite journal  | author=Stanford JL, Sabacan LP, Noonan EA, ''et al.'' |title=Association of HPC2/ELAC2 polymorphisms with risk of prostate cancer in a population-based study. |journal=Cancer Epidemiol. Biomarkers Prev. |volume=12 |issue= 9 |pages= 876-81 |year= 2003 |pmid= 14504198 |doi= }}
*{{cite journal  | vauthors=Adler D, Kanji N, Trpkov K |title=HPC2/ELAC2 gene variants associated with incident prostate cancer |journal=J. Hum. Genet. |volume=48 |issue= 12 |pages= 634–8 |year= 2004 |pmid= 14625808 |doi= 10.1007/s10038-003-0091-6 |display-authors=etal}}
*{{cite journal  | author=Adler D, Kanji N, Trpkov K, ''et al.'' |title=HPC2/ELAC2 gene variants associated with incident prostate cancer. |journal=J. Hum. Genet. |volume=48 |issue= 12 |pages= 634-8 |year= 2004 |pmid= 14625808 |doi= 10.1007/s10038-003-0091-6 }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
}}
}}
{{refend}}
{{refend}}


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{{gene-17-stub}}

Latest revision as of 00:26, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ Rebbeck TR, Walker AH, Zeigler-Johnson C, Weisburg S, Martin AM, Nathanson KL, Wein AJ, Malkowicz SB (Oct 2000). "Association of HPC2/ELAC2 Genotypes and Prostate Cancer". Am J Hum Genet. 67 (4): 1014–9. doi:10.1086/303096. PMC 1287872. PMID 10986046.
  2. ↑ Noda D, Itoh S, Watanabe Y, Inamitsu M, Dennler S, Itoh F, Koike S, Danielpour D, ten Dijke P, Kato M (September 2006). "ELAC2, a putative prostate cancer susceptibility gene product, potentiates TGF-beta/Smad-induced growth arrest of prostate cells". Oncogene. 25 (41): 5591–600. doi:10.1038/sj.onc.1209571. PMID 16636667.
  3. ↑ "Entrez Gene: ELAC2 elaC homolog 2 (E. coli)".
  4. ↑ Brzezniak LK, Bijata M, Szczesny RJ, Stepien PP (2011). "Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs". RNA Biol. 8 (4): 616–26. doi:10.4161/rna.8.4.15393. PMID 21593607.
  5. ↑ 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 (2001). "Role of HPC2/ELAC2 in hereditary prostate cancer". Cancer Res. 61 (17): 6494–9. PMID 11522646.
  6. ↑ 6.0 6.1 Rökman A, Ikonen T, Mononen N, Autio V, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Schleutker J (2001). "ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer". Cancer Res. 61 (16): 6038–41. PMID 11507049.
  7. ↑ 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 (2013). "ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy". Am. J. Hum. Genet. 93 (2): 211–23. doi:10.1016/j.ajhg.2013.06.006. PMC 3738821. PMID 23849775.

Further reading



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