From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Mitochondrial import receptor subunit TOM40 homolog is a
protein which in humans is encoded by the TOMM40
gene .
[5]
[6]
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 the
translocase of the outer membrane (TOM) complex, a
translocase of the
outer mitochondrial membrane that is essential for protein transport into the
mitochondrion .
[7]
Certain
alleles of this gene have been statistically associated with an increased risk of developing late-onset
Alzheimer's disease .
[8]
[9] One study has found that TOMM40 risk alleles appear twice as often in people with Alzheimer's disease than those without it.
[10] Because TOMM40 is located on
chromosome 19 , and is closely adjacent to
APOE ,
[6] 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 .
[11]
[12]
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000130204 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000002984 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Entrez Gene: TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)" .
^
a
b Freitas EM, Zhang WJ, Lalonde JP, Tay GK, Gaudieri S, Ashworth LK, Van Bockxmeer FM, Dawkins RL (1998). "Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1". DNA Seq . 9 (2): 89–100.
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^ Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT (March 2005).
"Dissection of the mitochondrial import and assembly pathway for human Tom40" . J. Biol. Chem . 280 (12): 11535–43.
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PMID
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^ Devi L, Prabhu BM, Galati DF, Avadhani NG, Anandatheerthavarada HK (August 2006).
"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.
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^ Roses AD, Lutz MW, Huentelman MJ, Chiba-Falek O, Welsh-Bohmer KA, Reiman EM (2009-07-12).
"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. Retrieved 2009-07-14 . ; Cortez MF (2009-07-12).
"Alzheimer's Gene Discovery May Help Predict Age Disease Hits" . Bloomberg.com. Retrieved 2009-07-14 .
^ Potkin SG, Guffanti G, Lakatos A, et al. (2009). Domschke K (ed.).
"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.
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PMC
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^ Yu CE, Seltman H, Peskind ER, Galloway N, Zhou PX, Rosenthal E, Wijsman EM, Tsuang DW, Devlin B, Schellenberg GD (June 2007).
"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.
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PMC
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^ Bu G (May 2009).
"Apolipoprotein E and its receptors in Alzheimer's disease: pathways, pathogenesis and therapy" . Nat. Rev. Neurosci . 10 (5): 333–44.
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PMID
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Szafranski K, Schindler S, Taudien S, et al. (2008).
"Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns" . Genome Biol . 8 (8): R154.
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Johnston AJ, Hoogenraad J, Dougan DA, et al. (2003).
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20287267 .
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