Gene
DHDDS
dehydrodolichyl diphosphate synthase subunit
- HGNC 20603(opens in a new tab)
- Ensembl gene ENSG00000117682(opens in a new tab)
- NCBI Gene 79947(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.11
- Coordinates
- Chromosome 1: 26,432,321–26,471,306 (GRCh38)
- Exons
- 9 exons across 39 kb
- Protein
- 333 amino acids
- Also known as
- HDS, FLJ13102, DS, RP59, hCIT
- MANE Select transcript
- ENST00000236342.12NM_205861.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Congenital Disorders of Glycosylation
- DHDDS-CDG
A disorder of glycosylation caused by variants in DHDDS, ranging from a recessive form of retinitis pigmentosa to a dominant neurodevelopmental disorder with seizures.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- Congenital Disorders of Glycosylation (CDG)
One of 98 genes linked to it
A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.
- 3 GenCC submitters rate it definitive or strong
Broader groupings
Retinitis Pigmentosa
One of 77 genes linked to it
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
- 3 GenCC submitters rate it definitive or strong
How DHDDS is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.3 kb of the gene's 39 kb; 1,002 of those bases code for the protein.
How a genome test reads DHDDS
44
positions in DHDDS where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 39 kb of DHDDS, introns included, not only the 3.3 kb of exons.
Traits linked to DHDDS
The Human Phenotype Ontology lists these as features of the rare conditions DHDDS can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epileptic encephalopathy
- Global developmental delay
- Poor eye contact
- Repeated seizures without recovery between them
- Encephalopathy
- Abnormality of coordination
- Ataxia
- Decreased reflex response
Show 29 more traits
- Delayed speech and language development
- EEG with multifocal slow activity
- Epilepsy
- Generalized myoclonic seizure
- Grand mal seizures
- Intellectual disability
- Loss of developmental milestones
- Tremor
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Attention deficit
- Autism
- Behavioral abnormality
- Brain degeneration
- Chiari type I malformation
- Degeneration of cerebrum
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Hypsarrhythmia
- Impulsivity
- Involuntary movements
- Jerking
- Mental deterioration
- Myoclonic absence seizure
- Unsteady walk
- Dystonia
- EEG abnormality
- Slow movements
Abnormality of the eye
- Decreased clarity of vision
- Difficulties with night vision
- Limited peripheral vision
- Optic disc pallor
- Rod-cone dystrophy
- Undetectable electroretinogram
- Abnormal electroretinogram
- Abnormal retinal pigmentation
Show 24 more traits
- Blindness
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Abnormal color vision
- Drooping upper eyelid
- Photopsia
- Abnormal involuntary eye movements
- Abnormality of vision
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DHDDS gene: dehydrodolichyl diphosphate synthase subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/dhdds
Dante Labs. DHDDS gene: dehydrodolichyl diphosphate synthase subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dhdds
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