DHDDS

Chr 1p36.11

dehydrodolichyl diphosphate synthase subunit

Aliases:: HDS, FLJ13102, DS, RP59, hCIT
MANE:: ENST00000236342.12

OMIM: 608172 ↗NCBI: 79947 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DHDDS · Q86SQ9

v62025-08-01

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

Mean pLDDT

94.8/ 100

Very high

333 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)9%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

retinitis pigmentosa 59
0.77
developmental delay and seizures with or without movement abnormalities
0.74
retinitis pigmentosa
0.67
neurodegenerative disease
0.53
hereditary disease
0.47
congenital disorder of glycosylation, type Ibb
0.42
DHDDS-CDG
0.40
Retinal dystrophy
0.37
undetermined early-onset epileptic encephalopathy
0.37
Hypercholesterolemia
0.20

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

Protein function (UniProt)

Dehydrodolichyl diphosphate synthase complex subunit DHDDS

With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery (PubMed:25066056, PubMed:28842490, PubMed:32817466, PubMed:33077723). Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490, PubMed:32817466, PubMed:33077723). Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length (PubMed:32817466). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394)