CEP126

centrosomal protein 126

Ensembl:
ENSG00000110318
UniProt:
Q9P2H0
OMIM:
614634
Synonyms:
KIAA1377

Cilia effects upon perturbation of CEP126

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
impaired pupillary reflex, increased fasting circulating glucose level
Mouse ciliopathy phenotype:
male infertility

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

Cep126 localised to the centrosome in a microtubule-independent manner and CEP126 is a regulator of microtubule organisation at the centrosome that acts through modulation of the transport of pericentriolar satellites, and consequently, of the organisation of cell structure(24867236).