SPLICE VARIANT

摘要

This invention relates to a novel isoform of the EGLN3 gene and the product of this gene, that has been implicated in certain disease states. This novel isoform lacks an internal stretch of nucleotides form the wild type gene, probably due to an alternative splicing event. Both the full length EGLN3 protein and EGLN3 splice variant have been shown to be biologically active. Overexpression of both these isoforms reduce HIF-mediated gene expression through HRE reporters, thus demonstrating their role in the HIF signalling pathway. The suppression effect of the EGLN3 splice variant appears to be stronger than that of the full length EGLN3 protein.