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NEDSSWI

Chr 19AR

deoxyhypusine synthase

Also known as: DHS, DS, MIG13, NEDSSWI

NCBI Gene: 1725 OMIM: 618480

This protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of eukaryotic translation initiation factor 5A, which is essential for protein synthesis regulation. Biallelic mutations cause a neurodevelopmental disorder with seizures and speech and walking impairment, inherited in an autosomal recessive pattern. The phenotype primarily affects the nervous system with impaired motor and language development.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]

OMIM ResearchGenerating clinical summary…