LCA5L
Lebercilin-like protein
Gene Information Card
| Symbol | LCA5L |
|---|---|
| Full Name | lebercilin LCA5 like |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 150082 ncbi.nlm.nih.gov/gene/150082 |
| Ensembl ID | ENSG00000160226 |
| UniProt ID | Q5VXK2 |
| OMIM ID | 611507 |
| HGNC ID | 26535 |
| Aliases | bA248C2.1, FLJ35725, MGC16384 |
Description
LCA5L (lebercilin LCA5 like) is a protein-coding gene located on chromosome 21q22.3. It encodes a protein with similarity to lebercilin (LCA5), which is involved in ciliary function. The gene is expressed in various tissues and may play a role in photoreceptor cell biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leber congenital amaurosis | Potential ciliary dysfunction; LCA5L is homologous to LCA5, a known ciliopathy gene | Limited; inferred from homology and expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Eye | 6.2 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | RNA-seq data |
| HeLa | 7.8 | RNA-seq data |
| K562 | 6.4 | RNA-seq data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T | missense | <0.01% | Unknown functional impact |
| c.250G>A | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • photoreceptor cell maintenance |
| • protein binding |
Pathways
• Ciliopathy-related pathways (inferred)
Protein Summary
The LCA5L protein is a 401-amino acid lebercilin-like protein with a coiled-coil domain. It is predicted to localize to cilia and may be involved in ciliary transport or signaling, similar to lebercilin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LCA5L Knockout HEK293 Cell Line | EDJ-KQ11256 | Human | 150082 | 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 |
