NEFH

neurofilament heavy chain

Ensembl:
ENSG00000100285
UniProt:
P12036
OMIM:
162230
Synonyms:
NF-H, NFH

Cilia effects upon perturbation of NEFH

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.10) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.83, ciliated=59.3%) PMID:26595381

Phenotypes

Mouse phenotype:
decreased mean corpuscular hemoglobin concentration
Mouse ciliopathy phenotype:
increased circulating alanine transamise level

Subcellular localization

basal body, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Transition zone

Function

NEFH has localized in ciliary tip,basal body, transition zone.