該基因編碼一個轉錄因子，參與氧調節基因的誘導，隨著氧水平的下降而誘導。編碼蛋白包含一個基本的螺旋-環-螺旋結構域蛋白二聚結構域以及一個在信號轉導途徑中發現的對氧水平有反應的結構域。該基因突變與紅細胞增多癥家族性4型有關。
This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4.