LBX1: A Key Regulator of Muscle Development and Neuronal Specification
Comprehensive genomic and proteomic overview of the LBX1 gene, its expression, mutations, and associated diseases.
Gene Information Card
| Symbol | LBX1 |
|---|---|
| Full Name | Ladybird homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 10616 ncbi.nlm.nih.gov/gene/10616 |
| Ensembl ID | ENSG00000138131 |
| UniProt ID | P52954 |
| OMIM ID | 604255 |
| HGNC ID | 6558 |
| Aliases | LBX1, ladybird-like homeobox 1, hLBX1 |
Description
LBX1 (ladybird homeobox 1) encodes a homeobox transcription factor essential for the specification of certain neuronal subtypes in the hindbrain and for the development of dorsal muscles in the limb. It is involved in the migration and differentiation of muscle precursor cells and plays a role in the formation of the dorsal spinal cord. Mutations and altered expression of LBX1 have been linked to congenital heart disease and susceptibility to adolescent idiopathic scoliosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adolescent idiopathic scoliosis | Altered LBX1 expression may disrupt normal muscle and skeletal development, contributing to spinal curvature. | GWAS studies (PMID: 21829352, 24861556) show association with LBX1 locus. |
| Congenital heart disease | LBX1 is expressed in cardiac neural crest cells; dysregulation may affect heart development. | Case-control studies (PMID: 26917587) report LBX1 variants in patients with tetralogy of Fallot. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Brain - cerebellum | 6.1 | Low |
| Spinal cord | 5.4 | Low |
| Adipose tissue | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 15.2 | High expression in muscle-derived cancer cell line |
| SK-N-SH (neuroblastoma) | 4.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 0.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11190870 (G>A) | SNV | 0.35 (East Asian) | Associated with increased risk of adolescent idiopathic scoliosis |
| c.2T>C (p.Met1Thr) | Missense | <0.01 | Potential loss of start codon; reported in congenital heart disease |
Mutation functional classification
Loss of Function (LOF)
The p.Met1Thr variant likely abolishes translation initiation, leading to loss of functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for LBX1.
Dominant Negative (DN)
No evidence of dominant-negative effects for LBX1 mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Development of skeletal muscle (Reactome: R-HSA-525793)
• Transcriptional regulation by homeobox proteins (Reactome: R-HSA-5617472)
Protein Summary
LBX1 is a 210-amino acid homeodomain-containing transcription factor. It localizes to the nucleus and binds specific DNA sequences to regulate gene expression. The protein is critical for the migration of muscle precursor cells into the limb buds and for the specification of dorsal interneurons in the spinal cord. Its expression is tightly regulated during development, and aberrant expression has been implicated in scoliosis and cardiac malformations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LBX1 Knockout HEK293 Cell Line | EDJ-KQ3894 | Human | 10660 | Details Get a Quote |
| LBX1 Knockout HeLa Cell Line | EDJ-KQ55456 | Human | 10660 | Details Get a Quote |
| LBX1 Knockout A-549 Cell Line | EDJ-KQ63940 | Human | 10660 | Details Get a Quote |
| LBX1 Knockout HCT 116 Cell Line | EDJ-KQ72397 | Human | 10660 | Details Get a Quote |
