功能： disease:Defects in KERA are the cause of the autosomal recessive cornea plana 2 (CNA2) [MIM:217300]. In CNA2, the forward convex curvature is flattened, leading to a decrease in refraction, reduced visual activity, extreme hyperopia (usually plus 10 d or more), hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis (often detected at an early age). CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population.,disease:Increased expression in the stroma of keratoconus corneas. Keratoconus is a noninflammatory disease characterized by thinning and scarring of the central portion of the cornea.,function:May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.,PTM:Binds keratan sulfate chains.,similarity:Belongs to the small leucine-rich proteoglycan (SLRP) family. Class II subfamily.,similarity:Contains 12 LRR (leucine-rich) repeats.,tissue specificity:Cornea. Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen.,
组织表达： Cornea (at protein level) (PubMed:10802664, PubMed:11683372). Increased expression in the stroma of keratoconus corneas (PubMed:11683372). Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen (PubMed:10802664).
功能： disease:Defects in KERA are the cause of the autosomal recessive cornea plana 2 (CNA2) [MIM:217300]. In CNA2, the forward convex curvature is flattened, leading to a decrease in refraction, reduced visual activity, extreme hyperopia (usually plus 10 d or more), hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis (often detected at an early age). CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population.,disease:Increased expression in the stroma of keratoconus corneas. Keratoconus is a noninflammatory disease characterized by thinning and scarring of the central portion of the cornea.,function:May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix.,PTM:Binds keratan sulfate chains.,similarity:Belongs to the small leucine-rich proteoglycan (SLRP) family. Class II subfamily.,similarity:Contains 12 LRR (leucine-rich) repeats.,tissue specificity:Cornea. Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen.,
组织表达： Cornea (at protein level) (PubMed:10802664, PubMed:11683372). Increased expression in the stroma of keratoconus corneas (PubMed:11683372). Also detected in trachea, and in low levels, in intestine, skeletal muscle, ovary, lung and putamen (PubMed:10802664).
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