Gene: ATOX1

Alternate names for this Gene: ATX1|HAH1

Gene Summary: This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.1

Description of this Gene: antioxidant 1 copper chaperone

Type of Gene: protein-coding

rs2016409 in ATOX1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2016409 in ATOX1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.