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NYX nyctalopin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_022567 Homo sapiens nyctalopin (NYX), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 TBD
XM_005272632 PREDICTED: Homo sapiens nyctalopin (NYX), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

Gene Symbol NYX
Entrez Gene ID 60506
Full Name nyctalopin
Synonyms CLRP, CSNB1, CSNB1A, CSNB4, NBM1
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.4

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].
Disorder

MIM: 300278

Night blindness, congenital stationary, type 1, 310500 (3)

mRNA Protein Product Sequence Price Select
NM_022567, 201025391 NP_072089, 12007646 nyctalopin precursor ORF Sequence $360.00
XM_005272632, 530421506 XP_005272689, 530421507 nyctalopin isoform X1 ORF Sequence $550.00
Homo sapiens (human)NYXNP_072089.1
Pan troglodytes (chimpanzee)NYXXP_001138632.2
Macaca mulatta (Rhesus monkey)SLRNXP_001087613.1
Canis lupus familiaris (dog)NYXXP_005641316.1
Bos taurus (cattle)NYXXP_005228361.1
Mus musculus (house mouse)NyxNP_775591.1
Rattus norvegicus (Norway rat)NyxNP_001094437.1
Gallus gallus (chicken)NYXXP_004934667.1
Danio rerio (zebrafish)nyxNP_001071085.1
Xenopus (Silurana) tropicalis (western clawed frog)nyxXP_002932845.2
Process
IDNameEvidence
GO:0007601visual perceptionIEA
GO:0008150biological_processND
GO:0050896response to stimulusIEA
Component
IDNameEvidence
GO:0005578proteinaceous extracellular matrixIEA
GO:0005622intracellularIDA
Function
IDNameEvidence
GO:0003674molecular_functionND
GeneCards NYX
UniProt Q9GZU5
Vega OTTHUMG00000021370
MIM 300278
Ensembl ENSG00000188937
HGNC 8082
HPRD 02232

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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