TOMM40

Mitochondrial import receptor subunit TOM40 homolog is a protein which in humans is encoded by the TOMM40 gene.^[5][6]

TOMM40
Identifiers
Aliases	TOMM40, C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40, translocase of outer mitochondrial membrane 40
External IDs	OMIM: 608061; MGI: 1858259; HomoloGene: 101105; GeneCards: TOMM40; OMA:TOMM40 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.32 Start 44,890,569 bp[1] End 44,903,689 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 A3 Start 19,435,238 bp[2] End 19,449,363 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in olfactory bulb beta cell mucosa of transverse colon right adrenal gland left adrenal gland left adrenal cortex right adrenal cortex tendon of biceps brachii gastrocnemius muscle apex of heart Top expressed in yolk sac epiblast embryo somite embryo lip right kidney dentate gyrus of hippocampal formation granule cell ventricular zone superior frontal gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function porin activity protein binding protein transmembrane transporter activity Cellular component integral component of membrane membrane mitochondrial outer membrane translocase complex integral component of mitochondrial outer membrane mitochondrial outer membrane mitochondrion pore complex cytosol mitochondrial inner membrane cytoplasm nucleoplasm Biological process ion transport transmembrane transport protein transport protein targeting to mitochondrion protein import into mitochondrial matrix macroautophagy Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10452 53333 Ensembl ENSG00000130204 ENSMUSG00000002984 UniProt O96008 Q9QYA2 RefSeq (mRNA) NM_001128916 NM_001128917 NM_006114 NM_001109748 NM_016871 RefSeq (protein) NP_001122388 NP_001122389 NP_006105 NP_001122388.1 NP_001122389.1 NP_006105.1 NP_001103218 NP_058567 Location (UCSC) Chr 19: 44.89 – 44.9 Mb Chr 7: 19.44 – 19.45 Mb PubMed search [3] [4]
Wikidata
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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 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]

Clinical significance

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]

See also

• TOMM20
• TOMM22
• TOMM70A