DCN: May affect the rate of fibrils formation. Defects in DCN are the cause of congenital stromal corneal dystrophy (CSCD). Corneal dystrophies are inherited, bilateral, primary alterations of the cornea that are not associated with prior inflammation or secondary to systemic disease. Most show autosomal dominant inheritance. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Motility/polarity/chemotaxis; Secreted; Extracellular matrix
Chromosomal Location of Human Ortholog: 12q21.33
Cellular Component: collagen type VI; cytoplasm; extracellular matrix; extracellular region; extracellular space; Golgi lumen; lysosomal lumen
Molecular Function: collagen binding; extracellular matrix binding; glycosaminoglycan binding; protein kinase inhibitor activity; protein N-terminus binding
Biological Process: aging; carbohydrate metabolic process; chondroitin sulfate biosynthetic process; chondroitin sulfate catabolic process; chondroitin sulfate metabolic process; cytokine and chemokine mediated signaling pathway; dermatan sulfate biosynthetic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; glycosaminoglycan metabolic process; kidney development; negative regulation of angiogenesis; negative regulation of JAK-STAT cascade; negative regulation of protein kinase activity; organ morphogenesis; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; placenta development; positive regulation of autophagy; positive regulation of macroautophagy; positive regulation of mitochondrial depolarization; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of transcription from RNA polymerase II promoter; response to lipopolysaccharide; response to mechanical stimulus; skeletal muscle development; wound healing
Disease: Corneal Dystrophy, Congenital Stromal
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