LRRC45
Leucine Rich Repeat Containing 45
Gene Information Card
| Symbol | LRRC45 |
|---|---|
| Full Name | Leucine Rich Repeat Containing 45 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 128977 ncbi.nlm.nih.gov/gene/128977 |
| Ensembl ID | ENSG00000180914 |
| UniProt ID | Q96C86 |
| OMIM ID | 617460 |
| HGNC ID | 28535 |
| Aliases | FLJ22662, MGC138290 |
Description
LRRC45 (Leucine Rich Repeat Containing 45) is a protein-coding gene located on chromosome 17q25.3. The encoded protein contains leucine-rich repeats and is involved in centrosome and cilia function. It is associated with primary cilia assembly and may play a role in cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Defects in ciliary protein transport | ClinVar: RCV000255014 |
| Nephronophthisis | Ciliary dysfunction | ClinVar: RCV000255014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 5.3 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.1 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| A549 | 6.8 | Lung cancer cells |
| K562 | 4.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T | Missense | 0.001% | p.Arg34Cys; potential loss of function |
| c.250G>A | Missense | 0.0005% | p.Gly84Ser; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense variants in LRRC45 may impair ciliary assembly, leading to ciliopathies.
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)
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
Pathways
• Cilium assembly (Reactome: R-HSA-5620920)
• Centrosome maturation (Reactome: R-HSA-380259)
Protein Summary
LRRC45 is a 45 kDa protein containing leucine-rich repeats. It localizes to the centrosome and is essential for primary cilium formation. The protein interacts with other ciliary components and is involved in the recruitment of intraflagellar transport proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC45 Knockout HEK293 Cell Line | EDJ-KQ4006 | Human | 201255 | Details Get a Quote |
| LRRC45 Knockout A-549 Cell Line | EDJ-KQ27551 | Human | 201255 | Details Get a Quote |
| LRRC45 Knockout HCT 116 Cell Line | EDJ-KQ27553 | Human | 201255 | Details Get a Quote |
| LRRC45 Knockout HeLa Cell Line | EDJ-KQ27554 | Human | 201255 | Details Get a Quote |
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