Description
Product Characteristics: LCA5 is a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Mutations in this gene cause Leber congenital amaurosis type V. Alternative splicing results in two transcript variants.
Target Information: This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]