DHDDS
dehydrodolichyl diphosphate synthase subunit
- Ensembl:
- ENSG00000117682
- UniProt:
- Q86SQ9
- OMIM:
- 608172
- Synonyms:
- DS, FLJ13102, HCIT, HDS, RP59
Cilia effects upon perturbation of DHDDS
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-13.05) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- tremors, increased thigmotaxis, preweaning lethality, complete penetrance, abnormal behavior, decreased total reti thickness
- Mouse ciliopathy phenotype:
- abnormal lens morphology
- Human ciliopathy phenotype:
- retinitis pigmentosa 59; developmental delay and seizures with or without movement abnormalities; retinitis pigmentosa
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
Function
Mutations in the DHDDS gene cause Retinitis Pigmentosa (PMID: 21295282, 10.1016/j.ajhg.2011.01.001).