Aliases for DOHH Gene
External Ids for DOHH Gene
Previous HGNC Symbols for DOHH Gene
Previous GeneCards Identifiers for DOHH Gene
This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
GeneCards Summary for DOHH Gene
DOHH (Deoxyhypusine Hydroxylase) is a Protein Coding gene. Diseases associated with DOHH include Familial Expansile Osteolysis. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include binding and deoxyhypusine monooxygenase activity.
UniProtKB/Swiss-Prot Summary for DOHH Gene
Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF-5A. This is the second step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine (PubMed:16533814, PubMed:16371467, PubMed:19706422). Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity).