Entrez gene ID | | 167691 |
Official gene symbol | | LCA5 |
Full name | | Leber congenital amaurosis 5 |
Aliases | | ,C6orf152, |
Gene 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] |
Location | | Chromosome: 6 Locus: 6q14.1 |
Gene position | | 80247147 - 80194708 Map Viewer |
Gene orientation | | minus |
Gene size | | 52440 bp |
Gene sequence |
| |
OMIM ID | | 611408 |