DHCR7

7-dehydrocholesterol reductase

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000172893
UniProt:
Q9UBM7
OMIM:
602858
Synonyms:
SLOS

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

Ciliopathy associations

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

References: PMID:17001700, PMID:30360379, PMID:21777499, PMID:33529473, PMID:9634533, PMID:12794707, PMID:9683613, PMID:9653161

Subcellular localization

basal body, nucleus

References: PMID:33284321

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) .