| 摘要 |
<p>Disclosed are compositions and methods related to NEDD4L, a ubiquitin ligase, and hypertension as well as viral budding. A systematic search for genetic polymorphism was conducted by resequencing exon and intron boundaries in human genomic DNA. Isoforms encoding a Ca 2+-dependent lipid binding C2 domain at the N-terminus of NEDD4L were identified. Additional isoforms lacing the Ca+ -dependent lipid binding C2 domain were also identified. A common polymorphism was identified, Variant 13, with either G (70%) or A (30%) as the last nucleotide of exon 1, which effects splice site function and formation of the Ca+-dependent lipid binding C2 domain. Identified isoforms are present in both kidney and adrenal samples.</p> |
