LRRC56: Leucine-Rich Repeat-Containing Protein 56
A ciliary protein associated with primary ciliary dyskinesia and respiratory tract infections
Gene Information Card
| Symbol | LRRC56 |
|---|---|
| Full Name | Leucine rich repeat containing 56 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 115399 ncbi.nlm.nih.gov/gene/115399 |
| Ensembl ID | ENSG00000175471 |
| UniProt ID | Q8IY56 |
| OMIM ID | 618227 |
| HGNC ID | 28319 |
| Aliases | C11orf71, DRC9, FLJ23577 |
Description
LRRC56 encodes a leucine-rich repeat-containing protein that localizes to cilia and is essential for proper axonemal dynein arm assembly and ciliary motility. Mutations in LRRC56 cause primary ciliary dyskinesia (PCD) with defects in outer dynein arms, leading to impaired mucociliary clearance and recurrent respiratory infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations disrupt outer dynein arm assembly, impairing ciliary beat frequency and mucociliary clearance. | ClinVar, OMIM |
| Recurrent respiratory tract infections | Ciliary dysfunction leads to chronic sinusitis, bronchitis, and bronchiectasis. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.1 | Low |
| Fallopian tube | 6.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II | 9.3 | Pancreatic cancer cell line |
| A-431 | 8.7 | Epidermoid carcinoma |
| HepG2 | 6.5 | Hepatocellular carcinoma |
| K-562 | 4.1 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.901C>T (p.Arg301*) | Nonsense | Rare | Premature stop; loss of function |
| c.1183_1184del (p.Leu395Valfs*2) | Frameshift | Rare | Truncated protein; loss of function |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Impaired protein folding; reduced ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of LRRC56 function, leading to outer dynein arm defects and PCD.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • cilium (GO:0005929) |
| • outer dynein arm assembly (GO:0036157) | • cilium-dependent cell motility (GO:0060285) |
| • protein binding (GO:0005515) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620924)
• Axonemal dynein complex assembly (Reactome: R-HSA-5620912)
Protein Summary
LRRC56 is a 488-amino acid protein containing leucine-rich repeats that mediate protein-protein interactions. It localizes to the ciliary axoneme and is required for the assembly of outer dynein arms. Loss of LRRC56 disrupts ciliary beat frequency and mucociliary clearance, causing primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC56 Knockout HEK293 Cell Line | EDJ-KQ2814 | Human | 115399 | Details Get a Quote |
| LRRC56 Knockout HCT 116 Cell Line | EDJ-KQ23772 | Human | 115399 | Details Get a Quote |
| LRRC56 Knockout HeLa Cell Line | EDJ-KQ57954 | Human | 115399 | Details Get a Quote |
| LRRC56 Knockout A-549 Cell Line | EDJ-KQ66445 | Human | 115399 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
