NYX

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]

Description

Nyctalopin

Tissue specificity

Not detected

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

X (41447343 - 41475710)

Ensembl ID

ENSG00000188937  (ver. 103.38)

Orthologs

Mouse Nyx: ENSMUSG00000051228

UniProt

Q9GZU5

neXtProt

NX_Q9GZU5

Human splice variants
Mouse splice variants

Protein structure