LCA5 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | LCA5 |
| Official Name | lebercilin LCA5 [Source:HGNC Symbol;Acc:HGNC:31923] |
| Ensembl ID | ENSG00000135338 |
| Bio databases IDs | |
| Aliases | lebercilin LCA5 |
| Synonyms | 4930431B11Rik, 5730406O13Rik, C6orf152, lebercilin LCA5, Leber congenital amaurosis 5 (human), ORF64, RGD1308555 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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