CFC1

cryptic, EGF-CFC family member 1

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000136698
UniProt:
P0CG37
OMIM:
605194
Synonyms:
CRYPTIC, HTX2

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.04) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Visceral Heterotaxy / Situs Inversus

References: PMID:11062482, PMID:11799476

Subcellular localization

No ciliary localization reported (cilia-associated gene).

Functional category

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

Function

Mutations in the CFC1 gene cause Visceral Heterotaxy (PMID: 11062482).