LONP2
lon peptidase 2, peroxisomal
Summary
In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1453012378 | 16:48,278,333 | C/T | — | uncertain significance |
| rs1292080223 | 16:48,278,515 | C/A | — | uncertain significance |
| rs762415143 | 16:48,286,220 | A/G | — | uncertain significance |
| rs750508815 | 16:48,286,271 | G/A | — | uncertain significance |
| rs193920895 | 16:48,290,523 | G/T | — | uncertain significance |
| rs917957606 | 16:48,292,545 | G/A | — | uncertain significance |
| rs3743989 | 16:48,295,347 | C/T | — | uncertain significance |
| rs199597008 | 16:48,295,370 | T/G | — | uncertain significance |
| rs373609168 | 16:48,295,482 | G/A | — | uncertain significance |
| rs1971905052 | 16:48,296,694 | A/G | — | uncertain significance |
| rs760970514 | 16:48,296,699 | A/G | — | uncertain significance |
| rs2544341951 | 16:48,296,751 | T/C | — | uncertain significance |
| rs377497324 | 16:48,303,929 | C/T | — | uncertain significance |
| rs150375495 | 16:48,303,930 | G/A | — | uncertain significance |
| rs778968212 | 16:48,311,367 | G/T | — | uncertain significance |
| rs750362594 | 16:48,337,123 | C/G | — | uncertain significance |
| rs1972845633 | 16:48,337,212 | A/T | — | uncertain significance |
| rs6500380 | 16:48,375,777 | A/C | — | — |
| rs901058441 | 16:48,381,489 | G/A | — | uncertain significance |
| rs980871312 | 16:48,381,609 | G/T | — | uncertain significance |
| rs879022015 | 16:48,382,046 | A/G | — | uncertain significance |
| rs749912983 | 16:48,382,125 | C/T | — | uncertain significance |
| rs1343636176 | 16:48,385,511 | A/G | — | uncertain significance |
| rs953156216 | 16:48,385,546 | G/A | — | likely benign |
| rs749482997 | 16:48,385,592 | G/C | — | uncertain significance |
| rs2544500007 | 16:48,385,666 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.