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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NYX
nyctalopin
Chromosome X Β· Xp11.4
NCBI Gene: 60506Ensembl: ENSG00000188937.8HGNC: HGNC:8082UniProt: Q9GZU5
36PubMed Papers
21Diseases
0Drugs
55Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingvisual perceptionsignaling receptor activityextracellular matrixcongenital stationary night blindnessRetinal dystrophyX-linked congenital stationary night blindnessAbnormality of the eye
✦AI Summary

NYX (nyctalopin) is an X-linked gene encoding a leucine-rich repeat (LRR) protein essential for normal vision, particularly in low-light conditions. The protein functions as a critical scaffold factor required for light-induced depolarization of retinal ON-bipolar cells 1, likely acting as an organizer for TRPM1 ion channels and GRM6 signaling receptors. NYX is specifically required for proper trafficking of TRPM1 to dendritic tips of ON-bipolar cells, where these channels mediate the cellular responses necessary for dim-light vision. The gene is expressed throughout retinal development and primarily localizes to the inner nuclear and ganglion cell layers, indicating its role in inner retinal circuitry 1. NYX mutations cause complete congenital stationary night blindness (CSNB1), an X-linked recessive condition characterized by severe impairment of night vision 2. This non-progressive disorder results from loss-of-function mutations that disrupt the normal visual signaling cascade in the inner retina. NYX represents approximately 3% of inherited retinal dystrophy cases in clinical cohorts 3 and has been identified as a candidate gene in early-onset high myopia families 4. As an X-linked disease arising from loss-of-function mechanisms, NYX mutations represent potential candidates for future gene replacement therapeutic strategies 2.

Sources cited
1
NYX encodes a leucine-rich repeat protein expressed in inner retinal layers; mutations cause CSNB1 based on inner retinal circuitry defect
PMID: 12714669
2
NYX mutations cause complete congenital stationary night blindness (CSNB); X-linked diseases from loss of function are candidates for gene replacement therapy
PMID: 32860923
3
NYX comprises approximately 3% of inherited retinal dystrophy cases in a clinically characterized Swedish IRD cohort
PMID: 37510321
4
Hemizygous NYX mutations were detected in early-onset high myopia families; NYX is an inherited retinal disease-associated gene
PMID: 37191617
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
congenital stationary night blindnessOpen Targets
0.68Moderate
Retinal dystrophyOpen Targets
0.54Moderate
X-linked congenital stationary night blindnessOpen Targets
0.41Moderate
Abnormality of the eyeOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
retinitis pigmentosaOpen Targets
0.12Weak
Autosomal dominant optic atrophy, classic typeOpen Targets
0.06Suggestive
myopiaOpen Targets
0.05Suggestive
Abnormality of refractionOpen Targets
0.04Suggestive
autosomal dominant optic atrophy, classic formOpen Targets
0.04Suggestive
Leber hereditary optic neuropathyOpen Targets
0.04Suggestive
Stargardt diseaseOpen Targets
0.04Suggestive
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathyOpen Targets
0.03Suggestive
intellectual developmental disorder and retinitis pigmentosa; IDDRPOpen Targets
0.03Suggestive
Cortical blindness - intellectual disability - polydactylyOpen Targets
0.03Suggestive
cortical blindness-intellectual disability-polydactyly syndromeOpen Targets
0.03Suggestive
Canavan diseaseOpen Targets
0.03Suggestive
infectionOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Night blindness, congenital stationary, 1AUniProt
Pathogenic Variants55
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)Pathogenic
not provided|Retinal dystrophy|Congenital stationary night blindness 1A
β˜…β˜…β˜†β˜†2025β†’ Residue 24
NM_001378477.3(NYX):c.632A>G (p.Asn211Ser)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 211
NM_001378477.3(NYX):c.23-1_23delinsTTPathogenic
not provided|Congenital stationary night blindness 1A|NYX-related disorder
β˜…β˜…β˜†β˜†2022
NC_000023.11:g.41473493_41473514delPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001378477.3(NYX):c.1108dup (p.Gln370fs)Pathogenic
Congenital stationary night blindness 1A
β˜…β˜†β˜†β˜†2025β†’ Residue 370
NM_001378477.3(NYX):c.946del (p.Ala316fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 316
NM_001378477.3(NYX):c.516del (p.Leu173fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 173
NM_001378477.3(NYX):c.1022G>A (p.Trp341Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 341
NM_001378477.3(NYX):c.1071del (p.Cys357fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 357
NM_001378477.3(NYX):c.22+5G>TPathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2024
NM_001378477.3(NYX):c.1054_1055del (p.Val352fs)Pathogenic
Congenital stationary night blindness|Congenital stationary night blindness 1A
β˜…β˜†β˜†β˜†2024β†’ Residue 352
NM_001378477.3(NYX):c.42del (p.Ser15fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 15
NM_001378477.3(NYX):c.1071C>A (p.Cys357Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 357
NM_001378477.3(NYX):c.823C>T (p.Leu275Phe)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 275
NM_001378477.3(NYX):c.587C>A (p.Ser196Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 196
NM_001378477.3(NYX):c.-6C>TPathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001378477.3(NYX):c.770del (p.Gly257fs)Pathogenic
not provided|Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 257
NM_001378477.3(NYX):c.1023G>A (p.Trp341Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 341
NM_001378477.3(NYX):c.807_819dup (p.Glu274delinsArgTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 274
NM_001378477.3(NYX):c.820G>T (p.Glu274Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 274
View on ClinVar β†—
Related Genes
IMPG1Shared pathway100%ROM1Shared pathway100%PRR4Shared pathway100%AIPL1Shared pathway100%RAXShared pathway100%IMPG2Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Ovary
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
NYXIMPG1ROM1PRR4AIPL1RAXIMPG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9GZU5
View on AlphaFold β†—
RankingsWhere NYX stands among ~20K protein-coding genes
  • #10,827of 20,598
    Most Researched36
  • #1,250of 5,498
    Most Pathogenic Variants55 Β· top quartile
Genes detectedNYX
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
PMID: 32860923
Prog Retin Eye Res Β· 2021
1.00
2
Cognitive Impairment in Parkinson's Disease: An Updated Overview Focusing on Emerging Pharmaceutical Treatment Approaches.
PMID: 37893474
Medicina (Kaunas) Β· 2023
0.90
3
Advance Insulin Injection Technique and Education With FITTER Forward Expert Recommendations.
PMID: 40180487
Mayo Clin Proc Β· 2025
0.80
4
Use of Continuous Glucose Monitors by People Without Diabetes: An Idea Whose Time Has Come?
PMID: 35856435
J Diabetes Sci Technol Β· 2023
0.70
5
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
PMID: 37510321
Genes (Basel) Β· 2023
0.60