DHPS

Chr 19p13.13

deoxyhypusine synthase

Aliases:: MIG13
MANE:: ENST00000210060.12

OMIM: 600944 ↗NCBI: 1725 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DHPS · P49366

v62025-08-01

Predicted Aligned Error matrix for DHPS — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.1/ 100

Very high

369 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)4%
Low(50–70)5%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with seizures and speech and walking impairment
0.62
syndromic intellectual disability
0.55
Global developmental delay
0.47
Intellectual disability
0.46
Seizure
0.46
familial hypercholesterolemia
0.46
EEG abnormality
0.46
Abnormal muscle tone
0.46
Atypical behavior
0.46
Abnormality of head or neck
0.46

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Deoxyhypusine synthase

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