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FIGURE: 1 / 3
Positive test controls include: 293T. The target is usually found in the following locations: Secreted, extracellular matrix, extracellular space.
Immunogen sequence: LLYLDRNSIA FVEEGAFQNL SGLLALHLNG NRLTVLAWVA FQPGFFLGRL FLFRNPWCCD CRLEWLRDWM EGSGRVTDVP CASPGSVAGL DLSQVTFGRS SDGLCVDPEE LNLTTSSPGP SPEPAATTVS RFSSLLSKLL APRVPVEEAA NTTGGLANAS LSDSLSSRGV GGAGRQPWFL LASCLLPSVA QHVVFGLQMD
The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB.
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Protein Aliases: leucine-rich repeat protein; no b wave; Nyctalopin
Gene Aliases: CLNP; CLRP; CSNB1; CSNB1A; CSNB4; NBM1; nob; NYX
UniProt ID: (Human) Q9GZU5, (Mouse) P83503
Entrez Gene ID: (Human) 60506, (Mouse) 236690
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