LACC1 Chromosome 13
Laccase domain containing 1
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What This Gene Does
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]
Associated Conditions (4)
Juvenile arthritis due to defect in LACC1
Leprosy
susceptibility to
1
Key Variants
RS730880295
Conflicting classifications of pathogenicity
Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
Health Risk
RS1955020297
Likely pathogenic
Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
Health Risk
RS2138301967
Likely pathogenic
Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
Health Risk
RS776489319
Likely pathogenic
Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
Health Risk
RS1594882933
Pathogenic
Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
Health Risk
RS1594883470
Pathogenic
Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
Health Risk
RS1594890601
Pathogenic
Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
Health Risk
RS184370809
Pathogenic
Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
Health Risk
RS2547599712
Pathogenic
Health Risk
RS10507522
Uncertain risk allele
Leprosy, susceptibility to, 1
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS730880295 | Health Risk | Conflicting classifications of pathogenicity | Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1 |
| RS1955020297 | Health Risk | Likely pathogenic | Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1 |
| RS2138301967 | Health Risk | Likely pathogenic | Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1 |
| RS776489319 | Health Risk | Likely pathogenic | Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1 |
| RS1594882933 | Health Risk | Pathogenic | Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1 |
| RS1594883470 | Health Risk | Pathogenic | Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1 |
| RS1594890601 | Health Risk | Pathogenic | Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1 |
| RS184370809 | Health Risk | Pathogenic | Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1 |
| RS2547599712 | Health Risk | Pathogenic | — |
| RS10507522 | Health Risk | Uncertain risk allele | Leprosy, susceptibility to, 1 |