Species Human Entrez 167691 | Human Mouse Ensembl ENSG00000135338 | |
Aliases LCA5, C6orf152, Leber congenital amaurosis 5, lebercilin External IDs MGI: 1923032 HomoloGene: 32718 GeneCards: LCA5 | ||
Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene. This protein is thought to be involved in centrosomal or ciliary functions.
Clinical significance
Mutations in the LCA5 gene are associated with Leber's congenital amaurosis.
References
LCA5 Wikipedia(Text) CC BY-SA