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LCA5
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For Research Use Only. Not For Clinical Use.
Background
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.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Respiratory ciliated cells, Endometrial ciliated cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (HEL)
Interaction
Interacts with NINL (PubMed:18826961). Interacts with OFD1 (PubMed:19800048). Interacts with FAM161A (PubMed:22940612). Interacts with components of the IFT complex B (PubMed:21606596).
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