AlphaFold predicted structure
NYX · Q9GZU5
Mean pLDDT
81.9/ 100
Confident
476 residues
Confidence breakdown
- Very high(≥ 90)69%
- Confident(70–90)8%
- Low(50–70)2%
- Very low(< 50)21%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NYX
Chr Xp11.4nyctalopin
- Aliases:
- CLRP, CSNB1A
- MANE:
- ENST00000378220.3
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesRetinal disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesGlaucoma (developmental)
Structural eye disease
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disease associations (Open Targets)
congenital stationary night blindness
0.69Retinal dystrophy
0.54X-linked congenital stationary night blindness
0.37lymphoma, Hodgkin, Y-linked pseudoautosomal
0.27Abnormality of the eye
0.26hereditary disease
0.19retinitis pigmentosa
0.14myopia
0.11open-angle glaucoma
0.10Rare isolated myopia
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Nyctalopin
Required for normal vision. Is a critical factor for light-induced depolarization of retinal ON-bipolar cells, likely acting as a scaffold for TRPM1 and GRM6. Required for TRPM1 trafficking to dendritic tips of ON-bipolar cells
Diseases associated with NYX
Curated MONDO disease pages that list NYX among their top associated genes.