Property Summary

NCBI Gene PubMed Count 1
PubMed Score 628.95
PubTator Score 172.22

Knowledge Summary

Patent

No data available

Expression

Gene RIF (37)

PMID Text
26782384 In the current study, we first took clinical and molecular datasets from case-control studies to determine the association between the ND3 G10398A mutation and breast cancer.
26336829 Earlier age at onset was noted in male Chinese Machado-Joseph disease patients with MT-ND3 gene 10398A polymorphism
26179426 Study identified cancer-specific somatic variants in the ND2 and ND3 regions, and the presence of these mutated DNAs in the serum during the postoperative period accurately predicted poor prognoses in oral squamous cell carcinomas.
24917144 The 10398G allele and Haplogroup I appear to confer significant protective effects for Fuchs endothelial corneal dystrophy
24020820 Hypoxia, oxidative stress, and saturated fatty acids impacted mitochondrial-mediated cell apoptosis and had promotion on MT-ND3 expression in hepatocytes.
22947169 Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency.
22364517 this short clinical review we evaluate the case reports of the m.10191T>C mutation causing complex I-deficient Leigh syndrome described in the literature.
20644561 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19758471 Observational study of gene-disease association. (HuGE Navigator)
19617458 mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
19520270 2 cases with a MELAS-like phenotype with additional unique features of epilepsia partialis continua accompanied by evolving lesions of the rolandic & calcarine cortices; both carried mutations in the MT-ND3 gene -- mt.10158T>C & mt.10191T>C
19458970 These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome.
19140314 Observational study of gene-disease association. (HuGE Navigator)
19077432 Observational study of gene-disease association. (HuGE Navigator)
19050702 Observational study of gene-disease association. (HuGE Navigator)
18709563 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18679013 Observational study of gene-disease association. (HuGE Navigator)
18518927 Observational study of gene-disease association. (HuGE Navigator)
18262047 Observational study of gene-disease association. (HuGE Navigator)
18082471 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17717444 Observational study of gene-disease association. (HuGE Navigator)
17701054 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17620498 Observational study of gene-disease association. (HuGE Navigator)
17429907 Observational study of gene-disease association. (HuGE Navigator)
17413873 study reports a novel heteroplasmic m.10197G>A mutation in the ND3 gene in three Korean children with bilateral basal ganglia lesions and partial deficiencies of respiratory chain complex I activity
17152068 These results show that the 10197G>A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for Leigh syndrome and dystonia.
17081685 Observational study of gene-disease association. (HuGE Navigator)
17066297 Observational study of gene-disease association. (HuGE Navigator)
16140977 Observational study of gene-disease association. (HuGE Navigator)
16023078 This is the first description of infantile Leigh syndrome due to a maternally transmitted T10191C substitution in ND3 and not due to a de novo mutation.
15975594 Observational study of gene-disease association. (HuGE Navigator)
15931342 Observational study of genetic testing. (HuGE Navigator)
15827561 Observational study of gene-disease association. (HuGE Navigator)
15211636 Observational study of gene-disease association. (HuGE Navigator)
14764913 mitochondrial ND3 gene mutation may have a role in causing in Leigh syndrome with early lethality
14604458 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
11607774 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIA      1 - 70
LLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE                              71 - 115
//

Text Mined References (15)

PMID Year Title
26782384 2015 Mitochondrial ND3 G10398A mutation: a biomarker for breast cancer.
21269460 2011 Initial characterization of the human central proteome.
20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
17152068 2007 A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
14760490 2004 Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
14705112 2004 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
12949126 2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
12840039 2003 Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
12611891 2003 The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
11456298 2001 Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
11130070 2000 Mitochondrial genome variation and the origin of modern humans.
7219534 1981 Sequence and organization of the human mitochondrial genome.
6343397 1983 Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.
3921850 1985 Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
1757091 1991 Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.