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LCA5

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).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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