Proteins shown to interact with LCA5 [GeneID=167691] in vivo.
| PAG Title | Proteins shown to interact with LCA5 [GeneID=167691] in vivo. |
| PAG ID | MAX000630 |
| Type | A |
| Source Link |  MSigDB |
| Publication Reference | NA |
| PAG Description | Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. Using tandem affinity purification, we identified 24 proteins that link lebercilin to centrosomal and ciliary functions. Members of this interactome represent candidate genes for LCA and other ciliopathies. Our findings emphasize the emerging role of disrupted ciliary processes in the molecular pathogenesis of LCA. |
| Species | Homo sapiens |
| Quality Metric Scores | nCoCo Score: 736 |
| Information Content | Rich |
| Other IDs | M1380 |
| Base PAG ID | MAX000630 |
| Human Phenotyte Annotation | |
| Curator | PAGER curation team |
| Curator Contact | PAGER-contact@googlegroups.com |
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