2 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
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25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinglymphadenitisalcohol drinkingplacental retentionAbnormality of the gastrointestinal tract
Based on limited published evidence, C1orf226 encodes a protein with binding capability that participates in an intergenic splice product with NOS1AP in mammalian kidney tissue 1. This intergenic product functions to prevent NOS1AP binding to nitric oxide synthase 1, representing the predominant isoform in kidney transcriptional and proteomic data 12. Disruption of this intergenic splicing is associated with monogenic nephrotic syndrome in humans and mice, responsive to anti-proteinuric treatment 1.
1
C1orf226 produces an intergenic splice product with NOS1AP that prevents NOS1 binding and is predominant in kidney; variants cause nephrotic syndrome
PMID: 413095772
Intergenic C1orf226/NOS1AP splicing product is predominant kidney isoform that precludes NOS1 binding; disruption causes nephrotic syndrome responsive to anti-proteinuric therapy
PMID: 38562757⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
lymphadenitisOpen Targets
alcohol drinkingOpen Targets
placental retentionOpen Targets
Abnormality of the gastrointestinal tractOpen Targets
transient myeloproliferative syndromeOpen Targets
neutrophil immunodeficiency syndromeOpen Targets
clear cell renal carcinomaOpen Targets
kidney diseaseOpen Targets
papillary thyroid carcinomaOpen Targets
glioblastoma multiformeOpen Targets
systemic lupus erythematosusOpen Targets
nephrotic syndromeOpen Targets
myelodysplastic syndromeOpen Targets
pancreatic ductal adenocarcinomaOpen Targets
ulcerative colitisOpen Targets
No pathogenic variants reported on ClinVar for this gene.