Lca5 Gene Summary [Mouse]
Acts upstream of or within intraciliary transport and photoreceptor cell maintenance. Located in axoneme; ciliary basal body; and photoreceptor connecting cilium. Is expressed in several structures, including nervous system; reproductive system; sensory organ; surface ectoderm; and thymus. Used to study Leber congenital amaurosis 5. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 5. Orthologous to human LCA5 (lebercilin LCA5). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Lca5 |
| Official Name | Leber congenital amaurosis 5 (human) [Source:MGI Symbol;Acc:MGI:1923032] |
| Ensembl ID | ENSMUSG00000032258 |
| Bio databases IDs | |
| Aliases | Leber congenital amaurosis 5 (human) |
| Synonyms | 4930431B11Rik, 5730406O13Rik, C6orf152, lebercilin LCA5, Leber congenital amaurosis 5 (human), ORF64, RGD1308555 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Lca5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ciliary protein causing Leber congenital amaurosis disease
- binding protein
- Growth-arrest specific micro-tubule binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- Leber congenital amaurosis type 5
- Leber congenital amaurosis type 1
- hereditary disorder
- polycystic liver disease type 2
- retinitis pigmentosa
- LCA5-related retinopathy
regulates
- NFkB (complex)
role in cell
- activation in
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cilia
- basal bodies
- Mitochondria
- axonemes
- connecting cilia
- nucleoplasm
- nucleoli
- neurites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Lca5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- intraflagellar transport
- photoreceptor cell maintenance
- protein transport
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- centrosome
- cilium basal body
- cilium
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding