Gene: NDUFAF6

Alternate names for this Gene: C8orf38|FRTS5|MC1DN17

Gene Summary: This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.1

Description of this Gene: NADH:ubiquinone oxidoreductase complex assembly factor 6

Type of Gene: protein-coding

rs10098778 in NDUFAF6 gene and Alzheimer's Disease PMID 31473137 2019 Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.

PMID 24162737 2013 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

rs2011567 in NDUFAF6 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10429294 in NDUFAF6 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs7845219 in NDUFAF6 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs12548874 in NDUFAF6 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs137853184 in NDUFAF6 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 PMID 18614015 2008 A mitochondrial protein compendium elucidates complex I disease biology.

PMID 22019594 2011 Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

rs762093523 in NDUFAF6 gene and Movement Disorders PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 18614015 2008 A mitochondrial protein compendium elucidates complex I disease biology.

PMID 27466185 2016 Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

rs7818688 in NDUFAF6 gene and Neuropathy PMID 25710658 2015 Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.

rs7818688 in NDUFAF6 gene and Peripheral Nervous System Diseases PMID 25710658 2015 Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.

rs7818688 in NDUFAF6 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 25710658 2015 Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia.

rs2599711 in NDUFAF6 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs481887 in NDUFAF6 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs896847 in NDUFAF6 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs12548367 in NDUFAF6 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.