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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NXNL1
nucleoredoxin like 1
Chromosome 19 · 19p13.11
NCBI Gene: 115861Ensembl: ENSG00000171773.3HGNC: HGNC:25179UniProt: Q96CM4
13PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingreceptor ligand activityresponse to oxidative stresscell redox homeostasisliver diseaseretinitis pigmentosaretinal degenerationretinitis pigmentosa 1
✦AI Summary

NXNL1 encodes two functionally distinct protein products essential for photoreceptor survival. The short isoform, rod-derived cone viability factor (RdCVF), is a secreted trophic factor that promotes cone photoreceptor survival by enhancing aerobic glycolysis and accelerating glucose uptake through interaction with glucose transporters 1. The long isoform, RdCVFL, is an enzymatically active thioredoxin that provides antioxidant defense by reducing oxidized cysteines in photoreceptor proteins, protecting against photooxidative stress 21. In retinitis pigmentosa, rod degeneration leads to reduced NXNL1 expression and loss of metabolic and redox signaling between rods and cones, triggering secondary cone death 3. Nxnl1-deficient mice exhibit increased rod photoreceptor sensitivity to light damage, while AAV-mediated RdCVF delivery protects against photooxidative injury 2. Combined delivery of both RdCVF and RdCVFL isoforms via single AAV vectors demonstrates superior preservation of visual function, cone density, and reduced lipid peroxidation compared to RdCVF alone in retinitis pigmentosa models 4. NXNL1 expression in retinal inner neurons is regulated by transcription factors CHX10/VSX2 5. These findings support NXNL1-based gene therapy as a gene-independent treatment strategy for inherited retinal dystrophies.

Sources cited
1
RdCVF accelerates glucose uptake by cones; RdCVFL provides antioxidant defense against reactive oxygen species
PMID: 37848252
2
RdCVFL protects rod photoreceptors from photooxidative damage; Nxnl1(-/-) mice are more sensitive to light damage
PMID: 25596499
3
Loss of rods reduces RdCVF expression, interrupting metabolic and redox signaling between rods and cones
PMID: 32120883
4
Combined RdCVF and RdCVFL delivery yields superior preservation of visual function, cone density, and reduced lipid peroxidation
PMID: 41769936
5
CHX10/VSX2 regulates NXNL1 promoter activity in inner retina
PMID: 19843539
6
RdCVF is a secreted truncated thioredoxin-like protein; RdCVFL is an enzymatically active thioredoxin
PMID: 29138681
Disease Associationsⓘ18
liver diseaseOpen Targets
0.02Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
retinal degenerationOpen Targets
0.01Suggestive
retinitis pigmentosa 1Open Targets
0.01Suggestive
retinoblastomaOpen Targets
0.01Suggestive
respiratory distress syndrome in premature infantsOpen Targets
0.01Suggestive
age-related macular degenerationOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
retinitisOpen Targets
0.00Suggestive
Cone rod dystrophyOpen Targets
0.00Suggestive
Rod-cone dystrophyOpen Targets
0.00Suggestive
neurodegenerative diseaseOpen Targets
0.00Suggestive
retinopathyOpen Targets
0.00Suggestive
Bardet-Biedl syndromeOpen Targets
0.00Suggestive
BlindnessOpen Targets
0.00Suggestive
retinal detachmentOpen Targets
0.00Suggestive
Retinal dystrophyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VSX1Protein interaction86%PDE6BProtein interaction84%VSX2Protein interaction82%PAX4Protein interaction76%TXNProtein interaction52%PRDX4Shared pathway40%
Tissue Expression6 tissues
Ovary
100%
Brain
33%
Bone Marrow
0%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
NXNL1VSX1PDE6BVSX2PAX4TXNPRDX4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96CM4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.45LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.74 [0.40–1.45]
RankingsWhere NXNL1 stands among ~20K protein-coding genes
  • #16,239of 20,598
    Most Researched13
  • #14,847of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedNXNL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The plasma peptides of Alzheimer's disease.
PMID: 34182925
Clin Proteomics · 2021
1.00
2
Restoration of Rod-Derived Metabolic and Redox Signaling to Prevent Blindness.
PMID: 37848252
Cold Spring Harb Perspect Med · 2024
0.90
3
Thioredoxin rod-derived cone viability factor protects against photooxidative retinal damage.
PMID: 25596499
Free Radic Biol Med · 2015
0.80
4
Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases.
PMID: 32120883
Int J Mol Sci · 2020
0.70
5
Maintaining Cone Function in Rod-Cone Dystrophies.
PMID: 29721982
Adv Exp Med Biol · 2018
0.60