LOXL1
lysyl oxidase like 1
Summary
This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16958477 | 15:74,218,466 | A/C | regulatory region variant | — |
| rs2505108225 | 15:74,219,267 | A/G | — | uncertain significance |
| rs1247487702 | 15:74,219,326 | C/T | — | uncertain significance |
| rs745309858 | 15:74,219,327 | G/A | — | uncertain significance |
| rs755667465 | 15:74,219,345 | G/C | — | uncertain significance |
| rs997125969 | 15:74,219,383 | C/G | — | uncertain significance |
| rs1174460511 | 15:74,219,397 | C/A | — | uncertain significance |
| rs1458940231 | 15:74,219,412 | G/T | — | uncertain significance |
| rs1301603645 | 15:74,219,451 | C/T | — | likely benign |
| rs2505109570 | 15:74,219,481 | C/A | — | uncertain significance |
| rs1048661 | 15:74,219,546 | G/T | missense variant | risk factor |
| rs2068587884 | 15:74,219,551 | C/T | — | uncertain significance |
| rs140374183 | 15:74,219,556 | C/T | — | benign |
| rs3825942 | 15:74,219,582 | G/A | missense variant | risk factor |
| rs78803776 | 15:74,219,599 | T/G | — | benign |
| rs138183635 | 15:74,219,602 | G/C | — | likely benign |
| rs145943705 | 15:74,219,606 | C/T | — | benign |
| rs924964663 | 15:74,219,705 | C/A | — | uncertain significance |
| rs1402237715 | 15:74,219,822 | G/T | — | uncertain significance |
| rs1023501921 | 15:74,219,882 | C/T | — | uncertain significance |
| rs41429348 | 15:74,220,000 | T/C | — | benign |
| rs1272764891 | 15:74,220,034 | G/C | — | uncertain significance |
| rs41435250 | 15:74,220,084 | G/T | synonymous variant | — |
| rs1308963221 | 15:74,220,112 | C/T | — | uncertain significance |
| rs185499294 | 15:74,220,122 | C/G | — | uncertain significance |
| rs1408365979 | 15:74,220,166 | G/A | — | uncertain significance |
| rs2505115233 | 15:74,220,167 | G/C | — | uncertain significance |
| rs1327197985 | 15:74,220,176 | A/C | — | uncertain significance |
| rs8034017 | 15:74,222,043 | A/G | upstream gene variant | — |
| rs2165241 | 15:74,222,202 | T/C | upstream gene variant | risk factor |
| rs1078967 | 15:74,222,987 | C/T | regulatory region variant | — |
| rs2415204 | 15:74,223,623 | A/C | — | — |
| rs74026308 | 15:74,223,646 | G/T | regulatory region variant | — |
| rs4886778 | 15:74,225,388 | C/G | — | — |
| rs2028386 | 15:74,226,708 | C/G | intron variant | — |
| rs4337252 | 15:74,226,765 | G/A | — | — |
| rs2028387 | 15:74,227,037 | A/G | — | — |
| rs4077284 | 15:74,228,391 | A/G | regulatory region variant | — |
| rs893817 | 15:74,229,065 | G/A | regulatory region variant | — |
| rs893818 | 15:74,229,195 | G/A | regulatory region variant | — |
| rs59755145 | 15:74,230,660 | G/C | — | — |
| rs12905253 | 15:74,232,437 | G/A | intron variant | — |
| rs11638944 | 15:74,234,082 | C/G | intron variant | — |
| rs535727626 | 15:74,235,716 | A/G | — | — |
| rs201011613 | 15:74,238,766 | A/T | missense variant | — |
| rs2505143512 | 15:74,238,781 | C/G | — | uncertain significance |
| rs755899987 | 15:74,238,859 | G/A | — | uncertain significance |
| rs147320272 | 15:74,239,442 | G/A | — | uncertain significance |
| rs13329473 | 15:74,239,525 | C/T | synonymous variant | benign |
| rs2505145124 | 15:74,239,550 | A/C | — | uncertain significance |
| rs748657954 | 15:74,240,208 | A/C | — | uncertain significance |
| rs750460 | 15:74,241,506 | G/T | — | — |
| rs374285740 | 15:74,241,806 | G/A | — | uncertain significance |
| rs143555452 | 15:74,241,896 | A/G | — | benign |
| rs66473812 | 15:74,242,383 | T/A | intron variant | — |
| rs3522 | 15:74,244,344 | C/T | 3 prime UTR variant | — |
| rs7173049 | 15:74,244,610 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.