CEP43

centrosomal protein 43

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000213066
UniProt:
O95684
OMIM:
605392
Synonyms:
FGFR1OP, FOP

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, abnormal motor coordition/balance, increased circulating alkaline phosphatase level, decreased mean corpuscular volume

Ciliopathy associations

  • Joubert Syndrome

References: PMID:41715205

Subcellular localization

basal body

References: PMID:41715205, PMID:41005307

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

CEP43 has localized in basal body.