background:
Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness or severe visual impairment in infants. Mutations in several genes with diverse functions mapping to two loci have been implicated in LCA causation. These proteins are involved in processes such as photoreceptor development and maintenance, phototransduction, vitamin A metabolism and protein trafficking. LCA5, also known as Lebercilin, is a ciliary protein that is widely expressed during development and localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. The Leber congenital amaurosis 5-like protein (LCA5L) is a 670 amino acid protein that belongs to the LCA5 family.
Similarity:
Belongs to the LCA5 family.
Database links:
Entrez Gene: 30082 Human
Entrez Gene: 385668 Mouse
SwissProt: O95447 Human
SwissProt: Q8C0X0 Mouse
Unigene: 517284 Human
Unigene: 24626 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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