Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 167691
MIM: 611408
HGNC: 31923
Ensembl: ENSG00000135338
Variants:
dbSNP: 167691
ClinVar: 167691
TCGA: ENSG00000135338
COSMIC: LCA5
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 27067258 | 2016 | Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. | 5 |
| 27067258 | 2016 | Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. | 5 |
| 24144451 | 2014 | Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. | 9 |
| 24144451 | 2014 | Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. | 9 |
| 23946133 | 2013 | Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. | 15 |
| 23946133 | 2013 | Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. | 15 |
| 21850168 | 2011 | Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. | 6 |
| 21850168 | 2011 | Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. | 6 |
| 19172513 | 2009 | LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. | 3 |
| 19172513 | 2009 | LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. | 3 |
| 19503738 | 2009 | Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. | 21 |
| 19800048 | 2009 | OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. | 93 |
| 19172513 | 2009 | LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. | 3 |
| 19172513 | 2009 | LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. | 3 |
| 19503738 | 2009 | Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. | 21 |
Citation
Dessen P
LCA5 (lebercilin LCA5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/65186/lca5-(lebercilin-lca5)
