LOXL3
Template:PBB Lysyl oxidase homolog 3 is an enzyme that in humans is encoded by the LOXL3 gene.[1][2]
Clinical significance
An autosomal recessive mutation (missense variant) in the LOXL3 gene is one of the causes of Stickler syndrome, a disease where collagen is not crosslinked properly. Common features are high myopia and cleft palate due to arthropathy (joint pathology) and vitreoretinopathy (pathology of the eye).[3]
See also
References
- ^ Jourdan-Le Saux C, Tomsche A, Ujfalusi A, Jia L, Csiszar K (Jun 2001). "Central nervous system, uterus, heart, and leukocyte expression of the LOXL3 gene, encoding a novel lysyl oxidase-like protein". Genomics. 74 (2): 211–8. doi:10.1006/geno.2001.6545. PMID 11386757.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ "Entrez Gene: LOXL3 lysyl oxidase-like 3".
- ^ Alzahrani F, Al Hazzaa SA, Tayeb H, Alkuraya FS (2015). "LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome". Hum. Genet. 134 (4): 451–3. doi:10.1007/s00439-015-1531-z. PMID 25663169.
Further reading
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