View source for TOMM40

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''Mitochondrial import receptor subunit TOM40 homolog''' is a [[protein]] which in humans is encoded by the ''TOMM40'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10452}}</ref><ref name="pmid10520737">{{cite journal | vauthors = Freitas EM, Zhang WJ, Lalonde JP, Tay GK, Gaudieri S, Ashworth LK, Van Bockxmeer FM, Dawkins RL | title = Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1 | journal = DNA Seq. | volume = 9 | issue = 2 | pages = 89–100 | year = 1998 | pmid = 10520737 | doi = 10.3109/10425179809086433}}</ref>
==Function==
''TOMM40'' codes for a protein that is embedded into outer membranes of mitochondria and is required for the [[Membrane transport|movement of proteins]] into [[mitochondria]]. More precisely, TOMM40 is the channel-forming subunit of the [[translocase of the outer membrane]] (TOM) complex,  a [[translocase]] of the [[outer mitochondrial membrane]] that is essential for protein transport into the [[mitochondrion]].<ref name="pmid15644312">{{cite journal | vauthors = Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT | title = Dissection of the mitochondrial import and assembly pathway for human Tom40 | journal = J. Biol. Chem. | volume = 280 | issue = 12 | pages = 11535–43 |date=March 2005 | pmid = 15644312 | doi = 10.1074/jbc.M413816200 | doi-access = free }}</ref>
== Clinical significance ==
Certain [[alleles]] of this gene have been statistically associated with an increased risk of developing late-onset [[Alzheimer's disease]].<ref name="pmid16943564">{{cite journal | vauthors = Devi L, Prabhu BM, Galati DF, Avadhani NG, Anandatheerthavarada HK | title = Accumulation of amyloid precursor protein in the mitochondrial import channels of human Alzheimer's disease brain is associated with mitochondrial dysfunction | journal = J. Neurosci. | volume = 26 | issue = 35 | pages = 9057–68 |date=August 2006 | pmid = 16943564 | doi = 10.1523/JNEUROSCI.1469-06.2006 | pmc = 6675337 | doi-access = free }}</ref><ref name="Roses_2009">{{cite web | url = http://www.abstractsonline.com/plan/ViewAbstract.aspx?sKey=044f000c-6554-4b15-9b4c-c75b0d2cec2b&cKey=067409c6-abb8-4523-9a42-b71fa4f969c4 | title = Apoe-3 And Tomm-40 Haplotypes Determine Inheritance Of Alzheimer's Disease Independently Of Apoe-4 Risk | vauthors = Roses AD, Lutz MW, Huentelman MJ, Chiba-Falek O, Welsh-Bohmer KA, Reiman EM | date = 2009-07-12 | work = Alzheimer's Association 2009 International Conference on Alzheimer's Disease | publisher = Alzheimer's Association | access-date = 2009-07-14}}; {{cite web | url = https://www.bloomberg.com/apps/news?pid=20601087&sid=a0kkLHdYJCU4 | title = Alzheimer's Gene Discovery May Help Predict Age Disease Hits  | author = Cortez MF | date = 2009-07-12  | publisher = Bloomberg.com | access-date = 2009-07-14 }}</ref> One study has found that TOMM40 risk alleles appear twice as often in people with Alzheimer's disease than those without it.<ref name="pmid19668339">{{cite journal  |vauthors=Potkin SG, Guffanti G, Lakatos A, etal |title=Hippocampal Atrophy as a Quantitative Trait in a Genome-Wide Association Study Identifying Novel Susceptibility Genes for Alzheimer's Disease |journal=PLOS ONE |volume=4 |issue=8 |pages=e6501 |year=2009 |pmid=19668339 |doi=10.1371/journal.pone.0006501 |pmc=2719581 |bibcode=2009PLoSO...4.6501P |editor1-last=Domschke |editor1-first=Katharina|doi-access=free }}</ref>  Because  ''TOMM40'' is located on [[chromosome 19]], and is closely adjacent to ''[[Apolipoprotein E|APOE]]'',<ref name="pmid10520737"/> another gene known to be associated with Alzheimer's, another study has suggested that the statistically significant correlation of ''TOMM40'' with Alzheimer's is due to [[linkage disequilibrium]].<ref name="pmid17434289">{{cite journal | vauthors = Yu CE, Seltman H, Peskind ER, Galloway N, Zhou PX, Rosenthal E, Wijsman EM, Tsuang DW, Devlin B, Schellenberg GD | title = Comprehensive Analysis of APOE and Selected Proximate Markers for Late-onset Alzheimer Disease: Pattern of Linkage Disequilibrium and Disease/Marker Association | journal = Genomics | volume = 89 | issue = 6 | pages = 655–65 |date=June 2007 | pmid = 17434289 | pmc = 1978251 | doi = 10.1016/j.ygeno.2007.02.002 }}</ref><ref name="pmid19339974">{{cite journal | author = Bu G | title = Apolipoprotein E and its receptors in Alzheimer's disease: pathways, pathogenesis and therapy | journal = Nat. Rev. Neurosci. | volume = 10 | issue = 5 | pages = 333–44 |date=May 2009 | pmid = 19339974 | pmc = 2908393 | doi = 10.1038/nrn2620 }}</ref>
==See also==
* [[TOMM20]]
* [[TOMM22]]
* [[TOMM70A]]
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
*{{cite journal   |vauthors=Walker LC, Waddell N, Ten Haaf A, etal |title=Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers |journal= Breast Cancer Research and Treatment|volume= 112|issue=  2|pages=  229–36|year=  2008|pmid= 18095154 |doi= 10.1007/s10549-007-9848-5 |s2cid=795870 }}
*{{cite journal   |vauthors=Szafranski K, Schindler S, Taudien S, etal |title=Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns |journal=Genome Biol. |volume=8 |issue= 8 |pages= R154 |year= 2008 |pmid= 17672918 |doi= 10.1186/gb-2007-8-8-r154  | pmc=2374985 |doi-access=free }}
*{{cite journal   |vauthors=Borowsky ME, Das B, Axiotis CA, etal |title=Haymaker gene expression in malignant and normal gynecologic tissues |journal=J. Histochem. Cytochem. |volume=54 |issue= 7 |pages= 753–61 |year= 2006 |pmid= 16495475 |doi= 10.1369/jhc.5A6765.2006 |doi-access= free }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal   |vauthors=Johnston AJ, Hoogenraad J, Dougan DA, etal |title=Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane |journal=J. Biol. Chem. |volume=277 |issue= 44 |pages= 42197–204 |year= 2003 |pmid= 12198123 |doi= 10.1074/jbc.M205613200 |doi-access= free }}
*{{cite journal  | vauthors=Das B, Tao SZ, Mushnitsky R, Norin AJ |title=Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and nonmalignant cells |journal=Int. J. Cancer |volume=94 |issue= 6 |pages= 800–6 |year= 2002 |pmid= 11745481 |doi=10.1002/ijc.1555  |s2cid=20287267 }}
*{{cite journal   |vauthors=Suzuki H, Okazawa Y, Komiya T, etal |title=Characterization of rat TOM40, a central component of the preprotein translocase of the mitochondrial outer membrane |journal=J. Biol. Chem. |volume=275 |issue= 48 |pages= 37930–6 |year= 2001 |pmid= 10980201 |doi= 10.1074/jbc.M006558200 |doi-access= free }}
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[[Category:Mitochondrial proteins]]