LCA5 Gene - Lebercilin
Genetic insights into LCA5-associated Leber congenital amaurosis
Gene Information Card
| Symbol | LCA5 |
|---|---|
| Full Name | Lebercilin LCA5 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 167691 ncbi.nlm.nih.gov/gene/167691 |
| Ensembl ID | ENSG00000135338 |
| UniProt ID | Q86VQ0 |
| OMIM ID | 611408 |
| HGNC ID | 31923 |
| Aliases | LCA5L, lebercilin |
Description
The LCA5 gene encodes lebercilin, a ciliary protein essential for photoreceptor function. Mutations in LCA5 cause Leber congenital amaurosis (LCA), a severe early-onset retinal dystrophy. Lebercilin localizes to the connecting cilium of photoreceptors and is involved in ciliary transport and maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leber congenital amaurosis 5 (LCA5) | Loss-of-function mutations in LCA5 disrupt lebercilin function, impairing ciliary transport in photoreceptors, leading to retinal degeneration. | ClinVar, OMIM #604537 |
| Retinitis pigmentosa (rare) | Biallelic LCA5 mutations can present with a retinitis pigmentosa phenotype in some cases. | ClinVar, literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 8.3 | Medium |
| Brain | 3.1 | Low |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | High expression |
| HEK293 | 4.5 | Moderate expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.835_836delAG (p.Ser279Valfs*5) | Frameshift | Rare | Loss of function, associated with LCA |
| c.1195C>T (p.Arg399*) | Nonsense | Rare | Premature stop, loss of function |
| c.1645C>T (p.Arg549Trp) | Missense | Rare | Likely damaging, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Majority of LCA5 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent lebercilin protein.
Gain of Function (GOF)
No gain-of-function mutations reported for LCA5.
Dominant Negative (DN)
No dominant-negative mechanism described; LCA5 is inherited in an autosomal recessive pattern.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cilium (GO:0005929) |
| • photoreceptor connecting cilium (GO:0032391) | • cilium assembly (GO:0060271) |
| • visual perception (GO:0007601) |
Pathways
• Ciliopathy pathway (KEGG: hsa04550)
• Phototransduction cascade (Reactome: R-HSA-2188538)
Protein Summary
Lebercilin (UniProt Q86VQ0) is a 697-amino acid protein localized to the connecting cilium of photoreceptors. It contains a coiled-coil domain and is involved in ciliary transport. Loss of lebercilin disrupts photoreceptor outer segment maintenance, leading to retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LCA5 Knockout HEK293 Cell Line | EDJ-KQ9183 | Human | 167691 | Details Get a Quote |
| LCA5L Knockout HEK293 Cell Line | EDJ-KQ11256 | Human | 150082 | Details Get a Quote |
| LCA5 Knockout A-549 Cell Line | EDJ-KQ35731 | Human | 167691 | Details Get a Quote |
| LCA5 Knockout HCT 116 Cell Line | EDJ-KQ35732 | Human | 167691 | Details Get a Quote |
| LCA5 Knockout HeLa Cell Line | EDJ-KQ35733 | Human | 167691 | Details Get a Quote |
| LCA5L Knockout A-549 Cell Line | EDJ-KQ39356 | Human | 150082 | Details Get a Quote |
| LCA5L Knockout HCT 116 Cell Line | EDJ-KQ39357 | Human | 150082 | Details Get a Quote |
| LCA5L Knockout HeLa Cell Line | EDJ-KQ39358 | Human | 150082 | Details Get a Quote |
