DHPS
Function
Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a critical lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue (PubMed:30661771). This is the first step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function.
Involvement in disease
Neurodevelopmental disorder with seizures and speech and walking impairment
NEDSSWI
An autosomal recessive disorder characterized by global developmental delay with intellectual disability and poor speech acquisition, and walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Additional features include seizures, mild dysmorphic features, and variable short stature.
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 synthase family.
Alternative names
DS, DHPS, Deoxyhypusine synthase, DHS