CEP43

centrosomal protein 43

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

Cilia effects upon perturbation of CEP43

Phenotypes

Mouse phenotype:: preweaning lethality, complete penetrance, abnormal motor coordition/balance, increased circulating alkaline phosphatase level, decreased mean corpuscular volume
Mouse ciliopathy phenotype:: abnormal reti blood vessel morphology, abnormal lens morphology, cataract, abnormal reti vasculature morphology

Ciliopathy associations

Joubert Syndrome

Subcellular localization

basal body

Functional category

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

Function

CEP43 has localized in basal body.

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