ALDH7A1
aldehyde dehydrogenase 7 family member A1
Summary
The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
Known Variants852 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs572425402 | 5:125,877,533 | T/C | — | uncertain significance |
| rs969756877 | 5:125,877,576 | G/A | — | uncertain significance |
| rs2035471 | 5:125,877,635 | A/G | — | benign |
| rs1310767295 | 5:125,877,690 | A/G | — | uncertain significance |
| rs192950824 | 5:125,877,743 | T/A | — | uncertain significance |
| rs886059833 | 5:125,877,839 | A/G | — | uncertain significance |
| rs886059834 | 5:125,877,876 | G/A | — | uncertain significance |
| rs886059835 | 5:125,877,957 | T/A | — | uncertain significance |
| rs74415886 | 5:125,878,054 | C/T | — | likely benign |
| rs886059836 | 5:125,878,073 | G/T | — | uncertain significance |
| rs114287342 | 5:125,878,082 | A/G | — | benign |
| rs1749636668 | 5:125,878,093 | C/T | — | uncertain significance |
| rs556404419 | 5:125,878,108 | C/G | — | uncertain significance |
| rs76363408 | 5:125,878,145 | C/T | — | benign |
| rs7715516 | 5:125,878,158 | C/T | — | benign |
| rs866715101 | 5:125,878,159 | G/A | — | uncertain significance |
| rs986689762 | 5:125,878,163 | A/G | — | uncertain significance |
| rs768166252 | 5:125,878,165 | G/A | — | uncertain significance |
| rs114575585 | 5:125,878,234 | G/A | — | benign |
| rs776633516 | 5:125,878,248 | T/G | — | uncertain significance |
| rs116566135 | 5:125,878,270 | T/C | — | likely benign |
| rs1036910923 | 5:125,878,287 | T/C | — | uncertain significance |
| rs886059837 | 5:125,878,292 | G/A | — | uncertain significance |
| rs561998848 | 5:125,878,343 | A/G | — | uncertain significance |
| rs76249070 | 5:125,878,403 | A/T | — | benign |
| rs559274917 | 5:125,878,467 | A/G | — | uncertain significance |
| rs115168957 | 5:125,878,531 | C/T | — | uncertain significance |
| rs1749665523 | 5:125,878,813 | T/A | — | uncertain significance |
| rs886059838 | 5:125,878,818 | C/T | — | uncertain significance |
| rs763990036 | 5:125,878,821 | G/T | — | uncertain significance |
| rs744723 | 5:125,878,853 | G/A | — | benign |
| rs744722 | 5:125,878,908 | C/A | — | benign |
| rs744721 | 5:125,878,909 | A/T | — | benign |
| rs744720 | 5:125,878,916 | A/T | — | benign |
| rs185960737 | 5:125,878,927 | G/A | — | conflicting classifications of pathogenicity |
| rs557939339 | 5:125,878,964 | T/G | — | uncertain significance |
| rs78029541 | 5:125,878,985 | T/C | — | benign |
| rs886059839 | 5:125,879,128 | T/C | — | uncertain significance |
| rs886059840 | 5:125,879,161 | A/T | — | uncertain significance |
| rs1371020118 | 5:125,879,165 | C/T | — | uncertain significance |
| rs886059841 | 5:125,879,173 | A/G | — | uncertain significance |
| rs1030740620 | 5:125,879,182 | G/A | — | uncertain significance |
| rs114580465 | 5:125,879,211 | C/T | — | benign |
| rs541286622 | 5:125,879,216 | G/A | — | uncertain significance |
| rs947195444 | 5:125,879,241 | T/G | — | uncertain significance |
| rs115645125 | 5:125,879,289 | T/A | — | benign |
| rs1749687779 | 5:125,879,367 | G/A | — | uncertain significance |
| rs190996922 | 5:125,879,369 | T/C | — | uncertain significance |
| rs1048144152 | 5:125,879,370 | C/T | — | uncertain significance |
| rs555172968 | 5:125,879,448 | C/T | — | likely benign |
| rs886059842 | 5:125,879,481 | C/T | — | uncertain significance |
| rs181404590 | 5:125,879,501 | G/T | — | uncertain significance |
| rs80345302 | 5:125,879,545 | A/C | — | benign |
| rs1483780 | 5:125,879,549 | T/C | — | benign |
| rs541187121 | 5:125,879,598 | C/T | — | uncertain significance |
| rs111675585 | 5:125,879,599 | G/A | — | uncertain significance |
| rs555808054 | 5:125,879,604 | C/T | — | uncertain significance |
| rs1411566716 | 5:125,879,726 | T/C | — | uncertain significance |
| rs1138005 | 5:125,879,839 | C/T | — | benign |
| rs1807 | 5:125,879,850 | G/C | — | benign |
| rs1060857 | 5:125,879,931 | G/A | — | benign |
| rs886059847 | 5:125,879,940 | C/T | — | uncertain significance |
| rs1749710686 | 5:125,879,953 | C/T | — | uncertain significance |
| rs139905907 | 5:125,879,967 | A/G | — | likely benign |
| rs372065850 | 5:125,880,016 | C/T | — | uncertain significance |
| rs1060856 | 5:125,880,109 | A/G | — | benign |
| rs533678440 | 5:125,880,253 | C/T | — | uncertain significance |
| rs112493228 | 5:125,880,254 | G/A | — | uncertain significance |
| rs1749722984 | 5:125,880,305 | C/T | — | uncertain significance |
| rs55923017 | 5:125,880,332 | T/C | — | likely benign |
| rs570223278 | 5:125,880,338 | A/C | — | uncertain significance |
| rs1749730625 | 5:125,880,501 | C/T | — | uncertain significance |
| rs2775 | 5:125,880,589 | C/T | — | benign |
| rs886059848 | 5:125,880,592 | C/T | — | uncertain significance |
| rs868005043 | 5:125,880,636 | G/A | — | uncertain significance |
| rs759591318 | 5:125,880,652 | C/T | — | conflicting classifications of pathogenicity |
| rs763737676 | 5:125,880,669 | G/C | — | uncertain significance |
| rs2112743884 | 5:125,880,677 | G/A | — | uncertain significance |
| rs761013423 | 5:125,880,698 | T/C | — | uncertain significance |
| rs1749738847 | 5:125,880,702 | G/C | — | uncertain significance |
| rs754312564 | 5:125,880,703 | T/C | — | likely pathogenic |
| rs765681480 | 5:125,880,707 | T/C | — | uncertain significance |
| rs61757684 | 5:125,880,710 | T/C | — | likely benign |
| rs140845195 | 5:125,880,712 | C/A | splice region variant | pathogenic |
| rs376308594 | 5:125,880,715 | G/C | — | uncertain significance |
| rs375299345 | 5:125,880,719 | G/A | — | likely benign |
| rs1749740538 | 5:125,880,725 | A/T | — | likely benign |
| rs368653376 | 5:125,880,731 | G/T | — | likely benign |
| rs4612066 | 5:125,880,951 | G/T | — | benign |
| rs2480242503 | 5:125,881,998 | C/T | — | likely benign |
| rs375505703 | 5:125,882,001 | A/G | — | likely benign |
| rs2480242573 | 5:125,882,004 | G/C | — | likely benign |
| rs1749784124 | 5:125,882,009 | T/C | — | likely benign |
| rs1064793830 | 5:125,882,015 | C/A | — | pathogenic |
| rs1057521316 | 5:125,882,016 | C/G | — | uncertain significance |
| rs745592760 | 5:125,882,017 | A/T | — | uncertain significance |
| rs1554097854 | 5:125,882,022 | G/A | — | conflicting classifications of pathogenicity |
| rs2480242641 | 5:125,882,024 | C/T | — | likely benign |
| rs561343926 | 5:125,882,025 | C/T | — | conflicting classifications of pathogenicity |
| rs1749785160 | 5:125,882,027 | T/C | — | uncertain significance |
Showing 100 of 852 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.