Recombinant Human Nyctalopin (NYX)

Uniprot Id

Q9GZU5

Target Species

Human

Target Name

NYX

Target Full Name

Nyctalopin

Target Involvement

Night blindness, congenital stationary, 1A (CSNB1A)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Small leucine-rich proteoglycan (SLRP) family, SLRP class IV subfamily

Target Tissue Specificity

Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer.

Target Synonyms

CLRP; CSNB1; CSNB4; leucine-rich repeat protein; Nyctalopin; NYX; NYX_HUMAN

Target Background

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.