PTHLH

parathyroid hormone like hormone

Ensembl:
ENSG00000087494
UniProt:
P12272
OMIM:
168470
Synonyms:
HHM, PLP, PTHR, PTHRP

Cilia effects upon perturbation of PTHLH

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:
abnormal head morphology, preweaning lethality, complete penetrance, increased blood urea nitrogen level
Mouse ciliopathy phenotype:
abnormal cranium morphology

Subcellular localization

cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • ECM & connective tissue
  • Transcription regulation

Function

Activation of PTH1R by PTHrP increased gene expression and the expression of the hedgehog transcription factor Gli-1 in osteocytes and osteoblasts(32039485).