ENOX1
ecto-NOX disulfide-thiol exchanger 1
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. [provided by RefSeq, Dec 2016]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2500730287 | 13:43,788,186 | C/T | — | likely benign |
| rs2500730883 | 13:43,788,205 | T/C | — | uncertain significance |
| rs146880051 | 13:43,788,215 | G/A | — | uncertain significance |
| rs2500731987 | 13:43,788,248 | T/A | — | uncertain significance |
| rs771317844 | 13:43,788,254 | A/G | — | uncertain significance |
| rs767013455 | 13:43,798,251 | C/T | — | uncertain significance |
| rs371666980 | 13:43,810,834 | C/T | — | uncertain significance |
| rs2501216786 | 13:43,810,865 | C/T | — | uncertain significance |
| rs17538444 | 13:43,834,270 | C/T | intron variant | — |
| rs143359640 | 13:43,864,360 | G/A | regulatory region variant | — |
| rs138978304 | 13:43,872,493 | C/G | — | uncertain significance |
| rs763037420 | 13:43,872,501 | G/A | — | uncertain significance |
| rs2502519048 | 13:43,872,524 | C/G | — | uncertain significance |
| rs1319579350 | 13:43,872,529 | C/T | — | uncertain significance |
| rs2502522720 | 13:43,872,649 | A/G | — | uncertain significance |
| rs1191699297 | 13:43,872,654 | T/C | — | uncertain significance |
| rs2047862772 | 13:43,896,553 | T/C | — | uncertain significance |
| rs148501815 | 13:43,896,594 | C/T | — | uncertain significance |
| rs375255742 | 13:43,918,739 | T/C | — | uncertain significance |
| rs150644099 | 13:43,918,763 | C/G | — | uncertain significance |
| rs144484642 | 13:43,930,108 | G/T | — | uncertain significance |
| rs1017499821 | 13:43,930,120 | G/T | — | uncertain significance |
| rs929466583 | 13:43,930,172 | C/A | — | uncertain significance |
| rs1227028432 | 13:43,934,082 | C/G | — | uncertain significance |
| rs1248866228 | 13:43,934,137 | C/T | — | uncertain significance |
| rs76824578 | 13:43,986,063 | T/C | — | likely benign |
| rs767580078 | 13:43,986,081 | A/G | — | uncertain significance |
| rs749617253 | 13:43,986,085 | G/A | — | uncertain significance |
| rs200423342 | 13:43,986,148 | G/T | — | uncertain significance |
| rs1290553766 | 13:43,986,158 | G/T | — | uncertain significance |
| rs762007064 | 13:43,986,163 | T/C | — | uncertain significance |
| rs745394819 | 13:43,987,017 | G/T | — | uncertain significance |
| rs779990104 | 13:43,987,023 | T/C | — | uncertain significance |
| rs6561127 | 13:44,010,168 | C/T | intron variant | — |
| rs17575422 | 13:44,052,241 | T/C | intron variant | — |
| rs4942239 | 13:44,135,427 | C/G | intron variant | — |
| rs78235548 | 13:44,168,684 | C/G | — | — |
| rs4942242 | 13:44,217,064 | T/G | — | — |
| rs9533603 | 13:44,312,190 | G/A | intron variant | — |
| rs4143229 | 13:44,327,799 | C/T | — | — |
| rs11147928 | 13:44,351,233 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.