NDUFV2 Antibody

1. haplotype T-C consisting of rs12457810 and rs12964485 in the 5'-upstream region of NDUFV2 may be a protective factor for the development of MDD in Han Chinese PMID: 26544616
2. We have identified NDUFV2 mutations in two families with Complex I deficiency, including a novel mutation. PMID: 26008862
3. The results show mitochondrial haplotypes associated with polymorphism of this gene are associated with elite middle and sprint power endurance in Japanese athletes PMID: 20551160
4. There is no statistical significance between NDUFV2 gene promoter variants and susceptibility to schizophrenia in Han Chinese. PMID: 21190551
5. The mitochondrial targeting sequence of NDUFV2 is located at the N-terminus of the precursor protein. Impairment of mitochondrial localization of NDUFV2 as a mechanistic basis for early-onset hypertrophic cardiomyopathy and encephalopathy was established. PMID: 21548921
6. Three single nucleotide polymorphisms in the NDUFV2 gene, were studies in bipolar disorder pateints and controls. PMID: 20978456
7. Our findings suggest further studies addressing the role of NDUFV2 variation in Parkinson's disease may be warranted. PMID: 20971673
8. mutation causes early onset hypertrophic cardiomyopathy and encephalopathy PMID: 12754703
9. Polymorphisms of this gene may be one of the genetic risk factors for bipolar disorder. PMID: 12815743
10. Polymorphisms in the promoter region of NDUFV2 are a genetic risk factor for bipolar disorder. The association of the haplotypes -602G> A and -3542G> A polymorphisms with bipolar disorder was seen both in Japanese case-control samples and NIMH trios. PMID: 15450783
11. NDUFV2 individual genotypes were not associated with schizophrenia, but the haplotype consisting of the two single nucleotide polymorphisms were significantly associated with schizophrenia. PMID: 16508936
12. genetic variants of NDUFV2 may increase risk for bipolar disorder. PMID: 18199248
13. This study found that the expressions of NDUFV2 were up-regulated in those from patients with Japanese bipolar II disorder and the mRNA levels of this gene were down-regulated in Caucasian schizophrenia. PMID: 19135101
14. Data show that the haplotype consisting of rs6506640 (-342G > A) and rs906807 (86C > T) on the mitochondrial gene NDUFV2 is found to be associated with bipolar disorder. PMID: 19194776

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HGNC: 7717

OMIM: 600532

KEGG: hsa:4729

STRING: 9606.ENSP00000327268

UniGene: Hs.464572