SC5D

sterol-C5-desaturase

Tier: Cilia-Associated Genes

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 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:38086515

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 signaling pathways ( 38086515).

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