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).