Gene: NDUFAF2

Alternate names for this Gene: B17.2L|MC1DN10|MMTN|NDUFA12L|mimitin

Gene Summary: NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency.

Gene is located in Chromosome: 5

Location in Chromosome : 5q12.1

Description of this Gene: NADH:ubiquinone oxidoreductase complex assembly factor 2

Type of Gene: protein-coding

rs2161199 in NDUFAF2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs12518792 in NDUFAF2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs137852863 in NDUFAF2 gene and Leigh Disease PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

rs290506 in NDUFAF2 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs137852863 in NDUFAF2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs137852863 in NDUFAF2 gene and Multiple congenital anomalies PMID 22644603 2012 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

PMID 10649489 2000 Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18180188 2008 The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

PMID 20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

PMID 19384974 2009 Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

PMID 16950771 2006 Bovine complex I is a complex of 45 different subunits.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

rs137852863 in NDUFAF2 gene and Muscle hypotonia PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 22644603 2012 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

PMID 10649489 2000 Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

PMID 19384974 2009 Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

PMID 18180188 2008 The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

PMID 16950771 2006 Bovine complex I is a complex of 45 different subunits.

PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

rs162227 in NDUFAF2 gene and Parkinson Disease PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 28892059 2017 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

rs2161199 in NDUFAF2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1526896 in NDUFAF2 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs13187930 in NDUFAF2 gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs34642 in NDUFAF2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.