OTP

orthopedia homeobox

Ensembl:
ENSG00000171540
UniProt:
Q5XKR4
OMIM:
604529

Cilia effects upon perturbation of OTP

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-11.78) 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:
increased circulating iron level; preweaning lethality; complete penetrance

Ciliopathy associations

  • Holoprosencephaly

Subcellular localization

nuclear bodies, nucleoli fibrillar center, nucleoplasm

Functional category

  • Metabolism; Motile cilium & axoneme

Function

Mutations in OTP cause Holoprosencephaly (PMID: 11785508).