NDUFV1 Antibody

1. Mutations in the ND6, NDUFV1 or ACAD9 genes are responsible for the mitochondrial complex I deficiency. PMID: 29348607
2. we have used a yeast model system to study the molecular consequences of 16 single amino acid substitutions, classified as pathogenic, in the NDUFV1 subunit of complex I PMID: 26345448
3. small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative developmental/neuropsychiatric susceptibility gene(s), GSTP1 and NDUFV1. PMID: 25432440
4. The results affirm that NDUFV1 mutations are causative of the phenotype in two siblings affected by a diffuse leukodystrophy. PMID: 23562761
5. observed 2 consanguinous siblings with early-onset encephalopathy, medulla, brainstem and mesencephalon lesions and death before 8 months of age, caused by a complex I deficiency; identified a missense mutation in the NDUFV1 gene; the mutation, p.Arg386His, affects a highly conserved residue PMID: 21696386
6. study describes clinical, radiological, biochemical and molecular data of 6 patients with Leigh syndrome with novel mutations in NDUFV1 and NDUFS2; 2 siblings were homozygous for previously undescribed R386C mutation in NDUFV1 PMID: 23266820
7. significant negative-correlation between left ventricular end-diastolic dimension and NDUFV1 production in dilated cardiomyopathy PMID: 20930427
8. Sp1 was abnormally expressed in schizophrenia and its mRNA alteration pattern paralleled that of NDUFV1 and NDUFV2 in schizophrenic patients. PMID: 17786189
9. Mutations in the NDUFV1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders. PMID: 20153825

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HGNC: 7716

OMIM: 161015

KEGG: hsa:4723

STRING: 9606.ENSP00000322450

UniGene: Hs.7744