LCA5 Antibody, Biotin conjugated

1. The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy. PMID: 27067258
2. Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa. PMID: 23946133
3. This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations. PMID: 24144451
4. A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts. PMID: 21850168
5. Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma. PMID: 16082399
6. The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5. PMID: 17546029
7. Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%). PMID: 18000884
8. This is the second report of LCA5 mutations causing Leber congenital amaurosis. PMID: 18334959
9. This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans PMID: 19172513
10. Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions PMID: 19503738
11. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin PMID: 19800048

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HGNC: 31923

OMIM: 604537

KEGG: hsa:167691

STRING: 9606.ENSP00000358861

UniGene: Hs.21945