DOHH

Chr 19p13.3

deoxyhypusine hydroxylase

Aliases:: MGC4293
MANE:: ENST00000427575.6

OMIM: 611262 ↗NCBI: 83475 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DOHH · Q9BU89

v62025-08-01

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

Mean pLDDT

96.1/ 100

Very high

302 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)7%
Low(50–70)1%
Very low(< 50)1%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
0.71
complex neurodevelopmental disorder
0.37
neurodegenerative disease
0.36
neurodevelopmental disorder
0.19
prostate cancer
0.03
prostate carcinoma
0.03
Familial prostate cancer
0.03
metabolic dysfunction-associated steatohepatitis
0.03
glioblastoma
0.02
colitis
0.02

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

Protein function (UniProt)

Deoxyhypusine hydroxylase

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)