Gene: ENOX1

Alternate names for this Gene: CNOX|PIG38|bA64J21.1|cCNOX

Gene Summary: The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest.

Gene is located in Chromosome: 13

Location in Chromosome : 13q14.11

Description of this Gene: ecto-NOX disulfide-thiol exchanger 1

Type of Gene: protein-coding

rs1809803 in ENOX1 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.

rs7319075 in ENOX1 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs9533481 in ENOX1 gene and Diabetic Nephropathy PMID 21150874 2011 A genome-wide association study for diabetic nephropathy genes in African Americans.

rs17538444 in ENOX1 gene and Major Depressive Disorder PMID 23377640 2013 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.

PMID 29700475 2018 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

rs1105586 in ENOX1 gene and Rheumatoid Arthritis PMID 22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.

rs1809803 in ENOX1 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.