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Gene: NYX (nyctalopin) Homo sapiens
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Symbol: NYX
Name: nyctalopin
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CLRP; CSNB1; CSNB1A; CSNB4; leucine-rich repeat protein; MGC138447; NBM1
Orthologs:
Mus musculus (house mouse) : Nyx (nyctalopin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nyx (nyctalopin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nyx (nyctalopin)
Pan paniscus (bonobo/pygmy chimpanzee) : NYX (nyctalopin)
Canis lupus familiaris (dog) : LOC491837 (uncharacterized LOC491837)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nyx (nyctalopin)
Sus scrofa (pig) : NYX (nyctalopin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X41,447,460 - 41,476,414 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,306,713 - 41,334,905 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,191,631 - 41,219,907 (+)NCBINCBI36hg18NCBI36
Build 34X41,062,940 - 41,091,217NCBI
CeleraX45,447,487 - 45,475,680 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX39,038,027 - 39,066,404 (+)NCBIHuRef
CHM1_1X41,339,448 - 41,367,628 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
 
More on NYX
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1350886
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.