ATOX1
antioxidant 1 copper chaperone
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. [provided by RefSeq, Jul 2008]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17112252 | 5:151,123,347 | A/C | intron variant | — |
| rs556165671 | 5:151,124,219 | T/A | — | — |
| rs1195165401 | 5:151,125,926 | T/C | — | uncertain significance |
| rs372837190 | 5:151,125,944 | G/T | — | uncertain significance |
| rs2016409 | 5:151,126,324 | G/T | intron variant | — |
| rs754514276 | 5:151,131,271 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.