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> TOMM40

TOMM40 translocase of outer mitochondrial membrane 40

Gene ID: 10452, updated on 6-Oct-2024
Gene type: protein coding
Also known as: TOM40; PEREC1; C19orf1; PER-EC1; D19S1177E

Summary

The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
GeneReviews: Not available
A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
GeneReviews: Not available
A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.
GeneReviews: Not available
A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
GeneReviews: Not available
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
GeneReviews: Not available
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
GeneReviews: Not available
Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
GeneReviews: Not available
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
GeneReviews: Not available
Examination of the current top candidate genes for AD in a genome-wide association study.
GeneReviews: Not available
Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
GeneReviews: Not available
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
GeneReviews: Not available
Genome-wide analysis of genetic loci associated with Alzheimer disease.
GeneReviews: Not available
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
GeneReviews: Not available
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
GeneReviews: Not available
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
GeneReviews: Not available
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
GeneReviews: Not available
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
GeneReviews: Not available
Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.
GeneReviews: Not available
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
GeneReviews: Not available
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
GeneReviews: Not available
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
GeneReviews: Not available
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
GeneReviews: Not available
Genome-wide association study of Alzheimer's disease.
GeneReviews: Not available
Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
GeneReviews: Not available
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
GeneReviews: Not available
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
GeneReviews: Not available
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
GeneReviews: Not available
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
GeneReviews: Not available
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
GeneReviews: Not available
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
GeneReviews: Not available
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
GeneReviews: Not available
The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
GeneReviews: Not available

Genomic context

Location:
19q13.32
Sequence:
Chromosome: 19; NC_000019.10 (44891254..44903689)
Total number of exons:
10

Go to nucleotideGraphics FASTA GenBank

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Links

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