Gene: NOXO1

Alternate names for this Gene: P41NOX|P41NOXA|P41NOXB|P41NOXC|SH3PXD5|SNX28

Gene Summary: This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: NADPH oxidase organizer 1

Type of Gene: protein-coding

Gene: GFER

Alternate names for this Gene: ALR|ERV1|HERV1|HPO|HPO1|HPO2|HSS|MMCHD|MPMCD

Gene Summary: The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: growth factor, augmenter of liver regeneration

Type of Gene: protein-coding

rs863224028 in NOXO1;GFER gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs121908192 in NOXO1;GFER gene and Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay PMID 20593814 2010 Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy .

PMID 19409522 2009 The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

rs4305019 in NOXO1;GFER gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4305019 in NOXO1;GFER gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.