Sequence in raw or FASTA format:
NYX nyctalopin [Homo sapiens (human)]
|Entrez Gene ID||60506|
|Synonyms||CLRP, CSNB1, CSNB1A, CSNB4, NBM1|
|General protein information|
|Organism||Homo sapiens (human)|
|Summary||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].|
Night blindness, congenital stationary, type 1, 310500 (3)
|Homo sapiens (human)||NYX||NP_072089.1|
|Pan troglodytes (chimpanzee)||NYX||XP_001138632.2|
|Macaca mulatta (Rhesus monkey)||SLRN||XP_001087613.1|
|Canis lupus familiaris (dog)||NYX||XP_005641316.1|
|Bos taurus (cattle)||NYX||XP_005228361.1|
|Mus musculus (house mouse)||Nyx||NP_775591.1|
|Rattus norvegicus (Norway rat)||Nyx||NP_001094437.1|
|Gallus gallus (chicken)||NYX||XP_004934667.1|
|Danio rerio (zebrafish)||nyx||NP_001071085.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||nyx||XP_002932845.2|
|GO:0050896||response to stimulus||IEA|
|GO:0005578||proteinaceous extracellular matrix||IEA|
What is the normal function of the NYX gene?
The NYX gene provides instructions for making a protein called nyctalopin, which plays an important role in a specialized tissue at the back of the eye called the retina. Within the retina, nyctalopin is located on the surface of light-detecting cells called photoreceptors. The retina contains two types of photoreceptors: rods and cones. Rods are responsible for vision in low light. Cones provide vision in bright light, including color vision.
Nyctalopin appears to play a critical role in normal vision. Studies suggest the protein helps relay visual signals from rods and cones to other retinal cells called bipolar cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain.
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