FADS1
fatty acid desaturase 1
Summary
The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141256183 | 11:61,566,678 | C/T | downstream gene variant | — |
| rs193250731 | 11:61,567,670 | T/G | downstream gene variant | — |
| rs174544 | 11:61,567,753 | C/A | downstream gene variant | — |
| rs76368178 | 11:61,568,827 | T/C | downstream gene variant | — |
| rs174545 | 11:61,569,306 | C/A | — | — |
| rs174546 | 11:61,569,830 | C/T | intron variant | — |
| rs1429828785 | 11:61,570,311 | C/A | — | uncertain significance |
| rs174547 | 11:61,570,783 | T/C | intron variant | — |
| rs174548 | 11:61,571,348 | C/G | intron variant | — |
| rs174549 | 11:61,571,382 | G/C | — | — |
| rs174550 | 11:61,571,478 | T/C | intron variant | — |
| rs174551 | 11:61,573,684 | T/C | intron variant | — |
| rs185270832 | 11:61,573,773 | C/T | intron variant | — |
| rs146063874 | 11:61,573,986 | G/T | intron variant | — |
| rs118088091 | 11:61,574,543 | T/C | intron variant | — |
| rs188046763 | 11:61,575,144 | G/A | intron variant | — |
| rs174553 | 11:61,575,158 | A/T | — | — |
| rs183843574 | 11:61,575,210 | T/G | intron variant | — |
| rs138012803 | 11:61,579,058 | G/A | downstream gene variant | — |
| rs72643557 | 11:61,579,427 | C/T | downstream gene variant | — |
| rs174554 | 11:61,579,463 | A/T | — | — |
| rs174555 | 11:61,579,760 | T/C | downstream gene variant | — |
| rs561023668 | 11:61,579,764 | T/C | — | — |
| rs1425572629 | 11:61,579,963 | C/A | — | uncertain significance |
| rs757056698 | 11:61,580,094 | C/T | — | likely benign |
| rs372910805 | 11:61,580,095 | G/A | — | uncertain significance |
| rs185249513 | 11:61,580,504 | G/A | regulatory region variant | — |
| rs174556 | 11:61,580,635 | C/T | downstream gene variant | — |
| rs174557 | 11:61,581,368 | A/T | — | — |
| rs568837322 | 11:61,581,412 | G/A | — | — |
| rs7394579 | 11:61,581,450 | A/T | — | — |
| rs546127383 | 11:61,581,569 | C/T | — | — |
| rs75810419 | 11:61,582,527 | C/A | regulatory region variant | — |
| rs174561 | 11:61,582,708 | T/C | coding sequence variant | — |
| rs1364380970 | 11:61,584,216 | C/A | — | likely benign |
| rs2066989156 | 11:61,584,261 | A/C | — | likely benign |
| rs555414942 | 11:61,584,286 | G/C | — | uncertain significance |
| rs773233291 | 11:61,584,319 | C/T | — | uncertain significance |
| rs116980792 | 11:61,585,140 | G/T | — | — |
| rs174562 | 11:61,585,144 | A/G | upstream gene variant | — |
| rs78032644 | 11:61,586,116 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.