lebercilin
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Function
- ciliary protein
Compartment
- localizes to connecting cilia of photoreceptors & to microtubules, centrioles & primary cilia of cultured mammalian cells
Expression
- expressed widely throughout development
Pathology
- defects associated with Leber congenital amaurosis
More general terms
References
- ↑ den Hollander AI et al, Mutations encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007, 39:889 PMID: https://www.ncbi.nlm.nih.gov/pubmed/17546029