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.
Function:
Might be involved in minus end-directed microtubule transport.
Subunit:
Interacts with NINL. Interacts with OFD1.
Subcellular Location:
Cytoplasm, cytoskeleton. Cell projection, cilium axoneme. Cell projection, cilium basal body. Note: In non ciliated cells, localizes to the centrosome and its associated microtubule array.
DISEASE:
Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5) [MIM:604537]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
Similarity:
Belongs to the LCA5 family.
Database links:
Entrez Gene: 167691 Human
Entrez Gene: 75782 Mouse
Entrez Gene: 300866 Rat
Omim: 611408 Human
SwissProt: Q86VQ0 Human
SwissProt: Q80ST9 Mouse
SwissProt: Q5U2Y9 Rat
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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