CYP7A1

Cilia effects upon perturbation of CYP7A1

Ciliogenesis screen results (3 screens)

• 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

Phenotypes

Mouse phenotype:

decreased circulating iron level, increased circulating alkaline phosphatase level, increased circulating hdl cholesterol level, decreased circulating serum albumin level, increased circulating cholesterol level, decreased blood urea nitrogen level, increased startle reflex, increased circulating unsaturated transferrin level, increased leukocyte cell number, decreased exploration in new environment

Mouse ciliopathy phenotype:

abnormal reti morphology, persistence of hyaloid vascular system, increased circulating bilirubin level, cataract, abnormal reti vasculature morphology, abnormal lens morphology, abnormal vitreous body morphology, abnormal reti blood vessel morphology

Subcellular localization

basal body

Functional category

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

Function

Hedgehog stimulation positively regulates the oxysterol synthase CYP7A1, which accumulates near the ciliary base and produces oxysterols that promote Hedgehog sig ling in response to pathway activation (33284321).