Short Description: 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. [provided by RefSeq, Oct 2008]. More information related to gene Nyctalopin.
Synonyms and alternative names related to Nyctalopin
nyctalopin (NYX)
nyctalopin L homeolog (nyx.L)
uncharacterized LOC491837 (LOC491837)
nyctalopin (nyx)
nyctalopin (Nyx)
CLNP
CLRP
CSNB1
CSNB1A
CSNB4
MGC84276
NBM1
nob
RGD1561300
Gene-IDs for different species
Protein level used designations for Nyctalopin
nyctalopin
leucine-rich repeat protein
no b wave
Proteomics products related to Nyctalopin Gene
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