Aliases for LCA5 Gene
External Ids for LCA5 Gene
Previous HGNC Symbols for LCA5 Gene
Previous GeneCards Identifiers for LCA5 Gene
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]
GeneCards Summary for LCA5 Gene
LCA5 (Leber Congenital Amaurosis 5) is a Protein Coding gene. Diseases associated with LCA5 include leber congenital amaurosis 5 and severe early-childhood-onset retinal dystrophy. GO annotations related to this gene include protein complex binding. An important paralog of this gene is LCA5L.
UniProtKB/Swiss-Prot for LCA5 Gene
Might be involved in minus end-directed microtubule transport.