2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 (OGFOD3)

2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 (OGFOD3) is a membrane-associated enzyme with predicted 2-oxoglutarate-dependent dioxygenase activity, iron ion binding, and L-ascorbic acid binding capacity. OGFOD3 belongs to a family of enzymes involved in oxidation–reduction processes that use iron and 2-oxoglutarate as cofactors. It is a protein-coding gene found mainly in animals, with orthologs observed in mammals and invertebrates. Despite being well-characterized at the sequence and domain level, the exact physiological substrates and biological roles of OGFOD3 remain largely uncharacterized. Association with disease has been suggested through genetic studies linking it to mixed receptive-expressive language disorder and chromosome 17q12 duplication syndrome. Gene fusion events involving OGFOD3 (e.g., OGFOD3-WDR45B) have been observed in some cancers, but its direct pathogenic or therapeutic relevance is undetermined and not currently a focus of targeted drug development.

Other names

C17orf101FLJ222222-oxoglutarate and iron dependent oxygenase domain containing 3PKHD domain-containing transmembrane protein C17orf101Chromosome 17 open reading frame 101