DHCR7

Cilia effects upon perturbation of DHCR7

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=196, lfc=-2.81) PMID:30270045

Phenotypes

Mouse phenotype:

enlarged spleen, abnormal placenta morphology, abnormal spleen morphology, abnormal placenta vasculature, edema, abnormal blood vessel morphology, preweaning lethality, complete penetrance, embryonic growth retardation

Mouse ciliopathy phenotype:

microphthalmia, abnormal kidney morphology, small kidney

Ciliopathy associations

• Holoprosencephaly
• Retinal Dystrophy/Degeneration
• Smith-Lemli-Opitz Syndrome

Subcellular localization

basal body, nucleus

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)

Function

DHCR7, an enzyme that produces cholesterol, activates the Hedgehog pathway, and localizes near the ciliary base(33284321) .