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lebercilin
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
Related
LCA5 gene
LCA5 gene mutation
General
microtubule-associated protein (MAP)
Properties
COMPARTMENT: cytoplasm
References
- den Hollander AI et al,
Mutations encoding the ciliary protein lebercilin, cause
Leber congenital amaurosis.
Nat Genet 2007, 39:889
PMID: 17546029