LOXL3

Lysyl oxidase homolog 3 is an is_associated_with::enzyme that in humans is encoded by the LOXL3 is_associated_with::gene.

Clinical significance
An autosomal recessive mutation (missense variant) in the LOXL3 gene is one of the causes of is_associated_with::Stickler syndrome, a disease where is_associated_with::collagen is not crosslinked properly. Common features are high is_associated_with::myopia and is_associated_with::cleft palate due to is_associated_with::arthropathy (is_associated_with::joint pathology) and vitreoretinopathy (pathology of the is_associated_with::eye).