LCA5
Description
The LCA5 (lebercilin LCA5) is a protein-coding gene located on chromosome 6.
Lebercilin, also known as Leber congenital amaurosis 5 (LCA5), is a protein encoded by the LCA5 gene in humans. It is believed to be involved in centrosomal or ciliary functions. Mutations in the LCA5 gene are linked to Leber's congenital amaurosis, a severe inherited eye disease.
Lebercilin is involved in the transport of proteins within the cilia of photoreceptor cells, a crucial process for proper photoreceptor function.
LCA5 is also known as C6orf152.
Associated Diseases
- Leber congenital amaurosis
- Leber congenital amaurosis 5
- Severe early-childhood-onset retinal dystrophy
