SC5D
sterol-C5-desaturase
- Ensembl:
- ENSG00000109929
- UniProt:
- O75845
- OMIM:
- 602286
- Synonyms:
- SC5DL
Cilia effects upon perturbation of SC5D
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (1 screen)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Loss of Sc5d results in mandibular hypoplasia through defective primary cilia-mediated hedgehog and WNT/β-catenin sig ling pathways ( 38086515).
Model organism evidence
Mus musculus (1 reference)
The activation of the hedgehog and WNT/β-catenin signaling pathways, which induce expression of osteogenic genes Col1a1 and Spp1, was compromised in the mandible of Sc5d null mice due to a failure in the formation of the primary cilium, a cell surface structure that senses extracellular cues.
PMIDs: 38086515