NEDD4L
LOCUS ID23327
GENE_SYMBOLNEDD4L
GENE NAMEnuclear factor, erythroid 2-like 2
SYNONYMNSNRF2, HEBP1
CHROMOSOME2
HOMOLOGENE ID2412
microRNAsNANA
GENE SUMMARY
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 polymorphisms in this gene may be associated with essential hypertension. Altertively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. 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