LOXL3 Chromosome 2
Lysyl oxidase like 3
Upload your DNA to see your personal genotypes for variants in LOXL3.
What This Gene Does
This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
Scavenger receptor cysteine rich domain containing
Locus Type
gene with protein product
Location
2p13.1
Ensembl
ENSG00000115318
Associated Conditions (5)
LOXL3-related Stickler syndrome
autosomal recessive
Myopia 28
Stickler syndrome
LOXL3-related disorder
Key Variants
RS1231646114
Conflicting classifications of pathogenicity
LOXL3-related Stickler syndrome, autosomal recessive, Myopia 28
Health Risk
RS148743316
Conflicting classifications of pathogenicity
Health Risk
RS367718984
Conflicting classifications of pathogenicity
Myopia 28, autosomal recessive, Myopia 28
Health Risk
RS574365163
Conflicting classifications of pathogenicity
Stickler syndrome, LOXL3-related disorder, Stickler syndrome
Health Risk
RS778516841
Conflicting classifications of pathogenicity
Health Risk
RS2104441352
Pathogenic
Myopia 28, autosomal recessive, Myopia 28
Health Risk
RS2530025111
Pathogenic
Myopia 28, autosomal recessive, Myopia 28
Health Risk
RS766420467
Pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1231646114 | Health Risk | Conflicting classifications of pathogenicity | LOXL3-related Stickler syndrome, autosomal recessive, Myopia 28 |
| RS148743316 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367718984 | Health Risk | Conflicting classifications of pathogenicity | Myopia 28, autosomal recessive, Myopia 28 |
| RS574365163 | Health Risk | Conflicting classifications of pathogenicity | Stickler syndrome, LOXL3-related disorder, Stickler syndrome |
| RS778516841 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2104441352 | Health Risk | Pathogenic | Myopia 28, autosomal recessive, Myopia 28 |
| RS2530025111 | Health Risk | Pathogenic | Myopia 28, autosomal recessive, Myopia 28 |
| RS766420467 | Health Risk | Pathogenic | — |