组织特异性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.
疾病相关Defects in NYX are the cause of congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]; 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.
序列相似性Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. Contains 11 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain.
细胞定位Secreted > extracellular space > extracellular matrix.