DHDDS

Chr 1

dehydrodolichyl diphosphate synthase subunit

Also known as: CIT, CPT, DEDSM, DS, HDS, RP59, hCIT

NCBI Gene: 79947 ENSG00000117682 UniProt: Q86SQ9

The protein encoded by DHDDS forms a complex essential for dolichol biosynthesis, producing the glycosyl carrier lipid required for protein glycosylation in the endoplasmic reticulum. Mutations cause retinitis pigmentosa 59, congenital disorder of glycosylation type 1bb, and developmental delay with seizures and movement abnormalities, with both autosomal recessive and autosomal dominant inheritance patterns reported. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.51), and the associated phenotypes affect multiple systems including vision, neurodevelopment, and protein glycosylation pathways.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 59

UniProtDevelopmental delay and seizures with or without movement abnormalities

UniProtCongenital disorder of glycosylation 1BB

Clinical highlights

Gene-disease validity (ClinGen)

DHDDS-CDG · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.51

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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