CLTB: Clathrin Light Chain B
A key component of clathrin-coated vesicles involved in intracellular trafficking and endocytosis.
Gene Information Card
| Symbol | CLTB |
|---|---|
| Full Name | Clathrin Light Chain B |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 1212 ncbi.nlm.nih.gov/gene/1212 |
| Ensembl ID | ENSG00000113595 |
| UniProt ID | P09497 |
| OMIM ID | 118970 |
| HGNC ID | 2092 |
| Aliases | Lcb, clathrin light chain B, clathrin LCB |
Description
CLTB encodes the light chain B subunit of clathrin, a major protein component of the cytoplasmic face of intracellular organelles called coated vesicles and coated pits. Clathrin-coated vesicles are involved in endocytosis and intracellular trafficking. The light chains are thought to regulate clathrin assembly and disassembly, and to interact with various accessory proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia (HSP) | Mutations in CLTB disrupt clathrin-mediated endocytosis in neurons, leading to axonal degeneration. | PMID: 25242043, ClinVar |
| Intellectual Disability | CLTB variants impair synaptic vesicle recycling, affecting neuronal function. | ClinVar, PMID: 25242043 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 23.5 | High |
| Lung | 12.1 | Medium |
| Liver | 8.4 | Medium |
| Heart | 7.9 | Medium |
| Kidney | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 12.8 | Embryonic kidney cell line |
| SH-SY5Y | 18.3 | Neuroblastoma cell line |
| A549 | 10.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.397C>T (p.Arg133*) | Nonsense | Rare | Loss of function; associated with HSP |
| c.524G>A (p.Arg175His) | Missense | Rare | Impaired clathrin assembly; reported in intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of clathrin light chain function, impairing endocytosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may act in a dominant-negative manner by disrupting clathrin lattice formation.
View complete mutation data：
Gene Ontology (GO)
| • clathrin light chain binding | • clathrin heavy chain binding |
| • structural molecule activity | • clathrin coat assembly |
| • intracellular protein transport | • endocytosis |
| • synaptic vesicle endocytosis |
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
Clathrin light chain B (CLTB) is a 229-amino acid protein that forms a heterodimer with clathrin heavy chain to assemble the clathrin triskelion. It regulates clathrin coat assembly and disassembly, and interacts with endocytic accessory proteins. CLTB is ubiquitously expressed, with highest levels in brain. Mutations cause hereditary spastic paraplegia and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLTB Knockout HEK293 Cell Line | EDJ-KQ4295 | Human | 1212 | Details Get a Quote |
| CLTB Knockout A-549 Cell Line | EDJ-KQ26782 | Human | 1212 | Details Get a Quote |
| CLTB Knockout HCT 116 Cell Line | EDJ-KQ26783 | Human | 1212 | Details Get a Quote |
| CLTB Knockout HeLa Cell Line | EDJ-KQ26784 | Human | 1212 | Details Get a Quote |
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