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NYX Defects in NYX are the cause of congenital stationary night blindness type 1A (CSNB1A); also called X- linked congenital stationary night blindness (XLCSNB). Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. CSNB1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: Xp11.4
Cellular Component: cytoplasm; intracellular
Molecular Function: protein kinase inhibitor activity
Biological Process: cytokine and chemokine mediated signaling pathway; negative regulation of JAK-STAT cascade; negative regulation of protein kinase activity
Disease: Night Blindness, Congenital Stationary, Type 1a
Reference #:  Q9GZU5 (UniProtKB)
Alt. Names/Synonyms: CLRP; CSNB1; CSNB4; leucine-rich repeat protein; MGC138447; Nyctalopin; NYX
Gene Symbols: NYX
Molecular weight: 52,000 Da
Basal Isoelectric point: 9.1  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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