Homo sapiens Gene: NYX | |||||||
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Summary | |||||||
InnateDB Gene | IDBG-57570.6 | ||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
Gene Symbol | NYX | ||||||
Gene Name | nyctalopin | ||||||
Synonyms | |||||||
Species | Homo sapiens | ||||||
Ensembl Gene | ENSG00000188937 | ||||||
Encoded Proteins |
nyctalopin
nyctalopin
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Protein Structure | |||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||
Entrez Gene | |||||||
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] |
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Gene Information | |||||||
Type | Protein coding | ||||||
Genomic Location | Chromosome X:41447434-41475710 | ||||||
Strand | Forward strand | ||||||
Band | p11.4 | ||||||
Transcripts |
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Interactions | |||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||
SwissProt | Q9GZU5 | ||||||
TrEMBL | |||||||
UniProt Splice Variant | |||||||
Entrez Gene | 60506 | ||||||
UniGene | Hs.302019 | ||||||
RefSeq | NM_022567 XM_005272632 | ||||||
HUGO | HGNC:8082 | ||||||
OMIM | 300278 | ||||||
CCDS | CCDS14256 | ||||||
HPRD | |||||||
IMGT | |||||||
EMBL | AF254868 AJ278865 BC112242 CH471141 Z93015 | ||||||
GenPept | AAG42685 AAI12243 CAC19014 CAI42364 EAW59399 EAW59401 | ||||||
RNA Seq Atlas | 60506 | ||||||