Gene Symbol | LCA5 |
Entrez Gene ID | 167691 |
Full Name | LCA5, lebercilin |
Synonyms | C6orf152 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Leber congenital amaurosis 5, 604537 (3) |