Biology:TOMM40
 Generic protein structure example |
Translocase of outer mitochondrial membrane 40 homolog (yeast), also known as TOMM40, is a protein which in humans is encoded by the TOMM40 gene.[1][2]
Function
TOMM40 codes for a protein that is embedded into outer membranes of mitochondria and is required for the movement of proteins into mitochondria. More precisely, TOMM40 is the channel-forming subunit of a translocase of the mitochondrial outer membrane (TOM) that is essential for protein transport into mitochondria.[3]
Clinical significance
In humans, certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease.[4][5] One study has found that TOMM40 risk alleles appears twice as often in people with Alzheimer's disease than those without it.[6] Because TOMM40 is located on chromosome 19, and is closely adjacent to APOE,[2] 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.[7][8]
See also
References
- ↑ "Entrez Gene: TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10452.
- ↑ 2.0 2.1 "Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1". DNA Seq. 9 (2): 89–100. 1998. doi:10.3109/10425179809086433. PMID 10520737.
- ↑ "Dissection of the mitochondrial import and assembly pathway for human Tom40". J. Biol. Chem. 280 (12): 11535–43. March 2005. doi:10.1074/jbc.M413816200. PMID 15644312.
- ↑ "Accumulation of amyloid precursor protein in the mitochondrial import channels of human Alzheimer's disease brain is associated with mitochondrial dysfunction". J. Neurosci. 26 (35): 9057–68. August 2006. doi:10.1523/JNEUROSCI.1469-06.2006. PMID 16943564.
- ↑ "Apoe-3 And Tomm-40 Haplotypes Determine Inheritance Of Alzheimer's Disease Independently Of Apoe-4 Risk". Alzheimer's Association 2009 International Conference on Alzheimer's Disease. Alzheimer's Association. 2009-07-12. http://www.abstractsonline.com/plan/ViewAbstract.aspx?sKey=044f000c-6554-4b15-9b4c-c75b0d2cec2b&cKey=067409c6-abb8-4523-9a42-b71fa4f969c4.; Cortez MF (2009-07-12). "Alzheimer's Gene Discovery May Help Predict Age Disease Hits". Bloomberg.com. https://www.bloomberg.com/apps/news?pid=20601087&sid=a0kkLHdYJCU4.
- ↑ Domschke, Katharina, ed (2009). "Hippocampal Atrophy as a Quantitative Trait in a Genome-Wide Association Study Identifying Novel Susceptibility Genes for Alzheimer's Disease". PLOS ONE 4 (8): e6501. doi:10.1371/journal.pone.0006501. PMID 19668339. Bibcode: 2009PLoSO...4.6501P.
- ↑ "Comprehensive Analysis of APOE and Selected Proximate Markers for Late-onset Alzheimer Disease: Pattern of Linkage Disequilibrium and Disease/Marker Association". Genomics 89 (6): 655–65. June 2007. doi:10.1016/j.ygeno.2007.02.002. PMID 17434289.
- ↑ Bu G (May 2009). "Apolipoprotein E and its receptors in Alzheimer's disease: pathways, pathogenesis and therapy". Nat. Rev. Neurosci. 10 (5): 333–44. doi:10.1038/nrn2620. PMID 19339974.
Further reading
- "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". Breast Cancer Research and Treatment 112 (2): 229–36. 2008. doi:10.1007/s10549-007-9848-5. PMID 18095154.
- "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". Genome Biol. 8 (8): R154. 2008. doi:10.1186/gb-2007-8-8-r154. PMID 17672918.
- "Haymaker gene expression in malignant and normal gynecologic tissues". J. Histochem. Cytochem. 54 (7): 753–61. 2006. doi:10.1369/jhc.5A6765.2006. PMID 16495475.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane". J. Biol. Chem. 277 (44): 42197–204. 2003. doi:10.1074/jbc.M205613200. PMID 12198123.
- "Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and nonmalignant cells". Int. J. Cancer 94 (6): 800–6. 2002. doi:10.1002/ijc.1555. PMID 11745481.
- "Characterization of rat TOM40, a central component of the preprotein translocase of the mitochondrial outer membrane". J. Biol. Chem. 275 (48): 37930–6. 2001. doi:10.1074/jbc.M006558200. PMID 10980201.
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