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NYX nyctalopin [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_022567 Homo sapiens nyctalopin (NYX), mRNA. ORF Sequence $419.34
Peptide Services
Antibody Services
Protein Services


Gene Symbol NYX
Entrez Gene ID 60506
Full Name nyctalopin
Synonyms CLRP, CSNB1, CSNB4, MGC138447
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 Full Length $762.41
ORF Sequence $419.34
Homo sapiens (human)NYXNP_072089.1
Pan troglodytes (chimpanzee)NYXXP_001138632.2
Macaca mulatta (Rhesus monkey)SLRNXP_001087613.1
Canis lupus familiaris (dog)NYXXP_548956.1
Mus musculus (house mouse)NyxNP_775591.1
Rattus norvegicus (Norway rat)NyxNP_001094437.1
Gallus gallus (chicken)NYXXP_416770.1
Danio rerio (zebrafish)nyxNP_001071085.1
GeneCards NYX
UniProt Q9GZU5
MIM 300278
Ensembl ENSG00000188937
HGNC 8082
HPRD 02232

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

General protein information

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