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.
Immunogen Information
Immunogen
Recombinant fusion protein of human NYX (NP_072089.1).
Gene ID
60506
Swissprot
Q9GZU5
Synonyms
NYXCLRPCSNB1CSNB1ACSNB4NBM1
Applications
Reactivity
Human,Mouse
Tested Applications
IHC
Conjugation
Unconjugated
Dilution
IHC 1:50-1:100
Concentration
1 mg/mL
Storage Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3
Storage Instructions
Store at -20°C. Avoid freeze / thaw cycles.
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