P4HB

prolyl 4-hydroxylase subunit beta

Ensembl:
ENSG00000185624
UniProt:
P07237
OMIM:
176790
Synonyms:
DSI, ERBA2L, GIT, P4HBETA, PDI

Cilia effects upon perturbation of P4HB

Ciliogenesis screen results (4 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
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=761, lfc=-0.04) PMID:30270045

Phenotypes

Mouse phenotype:
preweaning lethality; incomplete penetrance; embryonic lethality prior to tooth bud stage; embryonic growth retardation

Ciliopathy associations

  • Carpenter Syndrome

Subcellular localization

endoplasmic reticulum

Functional category

  • Motile cilium & axoneme

Function

Mutations in P4HB cause Carpenter Syndrome (PMID: 30063094; 29263160; 25683117; 29384951).