LACC1
laccase domain containing 1
Summary
This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1594882933 | 13:44,455,124 | G/A | — | pathogenic |
| rs34414396 | 13:44,455,233 | A/G | — | likely benign |
| rs760157069 | 13:44,455,234 | A/G | — | uncertain significance |
| rs1955003344 | 13:44,455,240 | A/C | — | uncertain significance |
| rs2547599181 | 13:44,455,293 | C/A | — | uncertain significance |
| rs141347663 | 13:44,455,296 | G/C | — | uncertain significance |
| rs760385768 | 13:44,455,335 | C/A | — | uncertain significance |
| rs777753874 | 13:44,455,374 | G/A | — | uncertain significance |
| rs1376272976 | 13:44,455,443 | C/G | — | likely benign |
| rs758994966 | 13:44,455,480 | A/G | — | uncertain significance |
| rs199580105 | 13:44,455,544 | G/A | — | likely benign |
| rs150202700 | 13:44,455,558 | C/G | — | uncertain significance |
| rs2547600687 | 13:44,455,603 | A/C | — | uncertain significance |
| rs775126230 | 13:44,455,612 | T/G | — | uncertain significance |
| rs138701717 | 13:44,455,624 | T/C | — | uncertain significance |
| rs2547600800 | 13:44,455,626 | A/G | — | uncertain significance |
| rs2547601057 | 13:44,455,672 | C/G | — | uncertain significance |
| rs138278706 | 13:44,456,447 | G/A | — | uncertain significance |
| rs1955108084 | 13:44,456,449 | A/G | — | uncertain significance |
| rs142958219 | 13:44,456,492 | G/A | — | uncertain significance |
| rs3764147 | 13:44,457,925 | A/G | missense variant | benign |
| rs1202741928 | 13:44,457,936 | G/C | — | uncertain significance |
| rs2547608924 | 13:44,457,946 | G/A | — | uncertain significance |
| rs758216941 | 13:44,457,960 | T/C | — | likely benign |
| rs774376052 | 13:44,457,997 | G/C | — | uncertain significance |
| rs730880295 | 13:44,458,015 | T/C | missense variant | pathogenic |
| rs79734099 | 13:44,463,003 | C/T | — | benign |
| rs529354475 | 13:44,464,263 | C/A | — | uncertain significance |
| rs184370809 | 13:44,464,356 | C/T | — | pathogenic |
| rs2547624472 | 13:44,464,398 | A/G | — | uncertain significance |
| rs10507522 | 13:44,479,000 | G/A | — | uncertain risk allele |
Gene information from NCBI Gene. Variant classifications from ClinVar.