Function
Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV.
Biological Context
Subcellular Location: Cytoplasm; Secreted, extracellular space
Tissue Specificity: Isoform 1: Predominantly detected in the heart, placenta, lung, and small intestine. Isoform 2: Highly detected in the kidney, pancreas, spleen, and thymus, and is absent in lung. In eye, present in all layers of corneas as well as in the limbus and conjunctiva (at protein level)
Disease Association: [Defects in LOXL3 are found in a family with an autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence and sensorineural deafness. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate). The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. Ocular disorders include non-progressive myopia with associated chorioretinal degeneration ] | Myopia 28, autosomal recessive (MYP28) : A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP28 patients are affected by early-onset high myopia in the first decade of life. Retinal detachment may occur, and early-onset cataract has been reported. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Lysyl oxidase homolog 3 (LOXL3) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 26-753aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 87.8kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Enzyme proteins →
