DOHH
Function
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:16371467, PubMed:16533814, PubMed:19706422). Hypusination is unique to mature eIF-5A factor and is essential for its function (By similarity).
Involvement in disease
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
NEDMVIC
An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and microcephaly.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; eIF5A hypusination.
Sequence Similarities
Belongs to the deoxyhypusine hydroxylase family.
Alternative names
HLRC1, DOHH, Deoxyhypusine hydroxylase, hDOHH, Deoxyhypusine dioxygenase, Deoxyhypusine monooxygenase, HEAT-like repeat-containing protein 1