nyctalopin

Summary
Gene Symbol
  • NYX
Aliases
  • CLRP
  • CSNB1A
Organism
Homo sapiens (human)
NCBI Gene
60506
HGNC
8082
KEGG Gene ID
hsa:60506
PubChem
60506
Alliance of Genome Resources
Annotation
Keyword
  • Congenital stationary night blindness
  • Disease variant
  • Extracellular matrix
  • Leucine-rich repeat
  • Proteoglycan
  • Reference proteome
  • Repeat
  • Signal
  • Vision
Proteins
Displaying 1 entry
UniProt Protein Name
Q9GZU5
KEGG BRITE Database
Orthology
K08129
Name
nyctalopin
References
Disease
The Human Phenotype Ontology
Displaying entries 11 - 14 of 14 in total
HPO ID HPO Term
HP:0007984 Electronegative electroretinogram
HP:0011003 High myopia
HP:0011463 Childhood onset
HP:0012047 Hemeralopia
Displaying all 2 entries
Disease ID Disease Name
ORPHA:215
  • X-linked congenital stationary night blindness
  • congenital stationary night blindness
OMIM:310500
  • congenital stationary night blindness 1A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025