| NEDD4L |
| LOCUS ID | 23327 | ||||||||||
| GENE_SYMBOL | NEDD4L | ||||||||||
| GENE NAME | nuclear factor, eryt | ||||||||||
| SYNONYMNS | NRF2, HEBP1 | ||||||||||
| CHROMOSOME | 2 | ||||||||||
| HOMOLOGENE ID | 2412 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitition of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, EC. Single nucleotide polymorphism |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. SNP rs512099, located in intron 1 of NEDD4L, was associated under a domint model of inheritance [P value = 0.0006; Odds ratio (95% Confidence Interval) OR (95% CI) = 0.70 (0.57-0.86)]. SNP rs1720843, located in intron 2 of SERPINB7, was associated under a recessive model of inheritance [P value = 0.0017; OR (95% CI) = 0.65 (0.50-0.85)]. Collectively, these suggest that multiple genes in this region may influence diabetic nephropathy susceptibility in AAs. | 19690890 |