DHDDS Gene - Dehydrodolichyl Diphosphate Synthase
Key enzyme in dolichol biosynthesis and protein N-glycosylation
Gene Information Card
| Symbol | DHDDS |
|---|---|
| Full Name | Dehydrodolichyl Diphosphate Synthase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 79947 ncbi.nlm.nih.gov/gene/79947 |
| Ensembl ID | ENSG00000117682 |
| UniProt ID | Q86SQ9 |
| OMIM ID | 608172 |
| HGNC ID | 20603 |
| Aliases | CIT, DEDDP, DHDPS, DPS, hCIT, RP59 |
Description
The DHDDS gene encodes dehydrodolichyl diphosphate synthase, an enzyme that catalyzes the cis-prenyl chain elongation step in the biosynthesis of dolichol, a lipid carrier essential for protein N-glycosylation. Mutations in DHDDS are associated with autosomal recessive retinitis pigmentosa and congenital disorders of glycosylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 59 | Loss-of-function mutations impair dolichol synthesis, disrupting glycosylation in photoreceptor cells | OMIM #613861 |
| Congenital disorder of glycosylation type Ibb | Defective dolichol biosynthesis leads to underglycosylation of proteins | OMIM #613861 |
| Autosomal recessive retinitis pigmentosa | Biallelic DHDDS mutations cause progressive retinal degeneration | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.3 | Medium |
| Adrenal gland | 11.2 | Medium |
| Thyroid | 10.8 | Medium |
| Brain | 9.5 | Medium |
| Retina | 8.7 | Medium |
| Liver | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Embryonic kidney cells |
| HeLa | 10.5 | Cervical cancer cells |
| K562 | 8.9 | Leukemia cells |
| SH-SY5Y | 7.3 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.111G>A (p.Trp37*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.632A>G (p.Lys211Arg) | Missense | Rare | Impaired enzyme activity; congenital disorder of glycosylation |
| c.124C>T (p.Arg42Cys) | Missense | Rare | Reduced dolichol synthesis; retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations reduce or abolish DHDDS enzymatic activity, leading to dolichol deficiency and impaired N-glycosylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Dolichol phosphate biosynthesis (Reactome: R-HSA-446193)
• N-glycan biosynthesis (KEGG: hsa00510)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
Dehydrodolichyl diphosphate synthase (DHDDS) is a 334-amino acid protein localized to the endoplasmic reticulum. It catalyzes the condensation of farnesyl diphosphate with multiple isopentenyl diphosphate molecules to form dehydrodolichyl diphosphate, a precursor of dolichol. Dolichol is required for the assembly of oligosaccharide precursors in N-linked protein glycosylation. The enzyme functions as a heterotetramer with NUS1.
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