pfam15619: Lebercilin (this model, PSSM-Id:406132 is obsolete and has been replaced by 464776)
Ciliary protein causing Leber congenital amaurosis disease
Lebercilin is a family of eukaryotic ciliary proteins. Mutations in the gene, LCA5, are implicated in the disease Leber congenital amaurosis. In photoreceptors, lebercilin is uniquely localized at the cilium that bridges the inner and outer segments. Lebercilin functions as an integral element of selective protein transport through photoreceptor cilia. Lebercilin specifically interacts with the intraflagellar transport (IFT), and disruption of IFT can lead to Leber congenital amaurosis.
Jiyao W et al.(2023). "The conserved domain database in 2023.",