NYX
Chr XXLRnyctalopin
Also known as: CLRP, CSNB1, CSNB1A, CSNB4, NBM1
NYX encodes a small leucine-rich proteoglycan that functions as a scaffold for TRPM1 and GRM6 proteins and is required for TRPM1 trafficking to dendritic tips of ON-bipolar cells in the retina. Mutations cause X-linked congenital stationary night blindness type 1A, characterized by impaired night vision, nystagmus, myopia or hyperopia, and reduced visual acuity. This follows X-linked recessive inheritance, affecting primarily males with carrier females potentially having mild symptoms.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NYX · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools