Leber congenital amaurosis 5 protein (Lebercilin) (LCA5)

Leber congenital amaurosis 5 protein, also known as lebercilin, is a microtubule-associated protein essential for the structural integrity and function of retinal photoreceptor cells (UniProt Q86W56) [1]. It localizes specifically to the connecting cilium, where it facilitates the transport of critical proteins between the inner and outer segments via interaction with the intraflagellar transport (IFT) machinery (NCBI Gene: 167691) [2]. Mutations in the LCA5 gene lead to Leber congenital amaurosis type 5, a severe form of inherited retinal dystrophy characterized by early-onset vision loss and photoreceptor degeneration (PubMed: 17529973) [3]. Because the disease results from a loss-of-function mutation, LCA5 is a primary target for gene replacement therapies (PubMed: 21490444) [4]. Current clinical developments, such as ATSN-201, utilize adeno-associated virus (AAV) vectors to deliver a functional LCA5 gene directly to the subretinal space (Atsena Therapeutics) [5]. These therapies aim to restore protein trafficking and preserve or improve visual function in affected patients.

Other names

LebercilinC6orf152LCA5, leber congenital amaurosis 5Leber congenital amaurosis 5

Gene replacement therapy via adeno-associated virus (AAV) vector delivery to provide a functional copy of the LCA5 gene to retinal photoreceptor cells (Atsena Therapeutics) [5].