Gene
dhdds
- ID
- ZDB-GENE-040426-2236
- Name
- dehydrodolichyl diphosphate synthase
- Symbol
- dhdds Nomenclature History
- Previous Names
-
- wu:fd56c06
- zgc:77088 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have dehydrodolichyl diphosphate synthase activity and polyprenyltransferase activity. Involved in detection of light stimulus involved in visual perception and eye photoreceptor cell development. Predicted to localize to dehydrodolichyl diphosphate synthase complex and endoplasmic reticulum. Human ortholog(s) of this gene implicated in developmental delay and seizures with or without movement abnormalities and retinitis pigmentosa 59. Orthologous to human DHDDS (dehydrodolichyl diphosphate synthase subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6908888 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Zuchner et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental delay and seizures with or without movement abnormalities | Alliance | Developmental delay and seizures with or without movement abnormalities | 617836 |
| retinitis pigmentosa 59 | Alliance | Retinitis pigmentosa 59 | 613861 |
| retinitis pigmentosa 59 | Alliance | ?Congenital disorder of glycosylation, type 1bb | 613861 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Decaprenyl diphosphate synthase-like | Decaprenyl diphosphate synthase-like superfamily | Di-trans-poly-cis-decaprenylcistransferase-like, conserved site |
|---|---|---|---|---|
|
UniProtKB:Q6NXA2
|
335 |
Interactions and Pathways
No data available
Plasmids
No data available