LMX1B
LIM Homeobox Transcription Factor 1 Beta
Gene Information Card
| Symbol | LMX1B |
|---|---|
| Full Name | LIM homeobox transcription factor 1 beta |
| Gene Type | protein-coding |
| Chromosomal Location | 9q33.3 |
| NCBI Gene ID | 4010 ncbi.nlm.nih.gov/gene/4010 |
| Ensembl ID | ENSG00000136944 |
| UniProt ID | O60663 |
| OMIM ID | 602575 |
| HGNC ID | 6654 |
| Aliases | LMX1.2, NPS1, LIM homeobox 1.2 |
Description
LMX1B encodes a member of the LIM homeodomain family of transcription factors. This protein is essential for the development of the dorsal-ventral axis of the limb, the kidney, and the pancreas. Mutations in LMX1B cause nail-patella syndrome (NPS), characterized by nail dysplasia, patellar aplasia/hypoplasia, and glomerulopathy. The protein regulates the expression of genes involved in podocyte differentiation and extracellular matrix organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nail-Patella Syndrome | Loss-of-function mutations in LMX1B disrupt limb and kidney development | OMIM #161200; ClinVar |
| Focal Segmental Glomerulosclerosis | LMX1B mutations impair podocyte function leading to proteinuria | PMID: 12663666; ClinVar |
| Glomerulopathy with Fibronectin Deposits | Missense mutations alter LMX1B transcriptional activity | PMID: 18235091 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Pancreas | 8.2 | Low |
| Skeletal Muscle | 6.1 | Low |
| Skin | 4.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cell line |
| A549 | 2.7 | Lung carcinoma |
| HepG2 | 1.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.736C>T (p.Arg246Ter) | Nonsense | Rare | Loss of function; truncation of homeodomain |
| c.737G>A (p.Arg246Gln) | Missense | Rare | Loss of DNA binding; dominant negative |
| c.194G>A (p.Arg65His) | Missense | Rare | Reduced transcriptional activity |
| c.680_681delAG | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the homeodomain, leading to haploinsufficiency.
Gain of Function (GOF)
Not reported for LMX1B.
Dominant Negative (DN)
Missense mutations in the homeodomain (e.g., p.Arg246Gln) that impair DNA binding and interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by LMX1B (PMID: 12663666)
Protein Summary
LMX1B is a 402-amino acid transcription factor containing two N-terminal LIM domains (zinc-binding) and a C-terminal homeodomain. It binds to TAATTA-like motifs in target gene promoters. The protein is critical for specifying dorsal limb identity, podocyte development, and pancreatic beta-cell function. Post-translational modifications include phosphorylation, which modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMX1B Knockout HEK293 Cell Line | EDJ-KQ5138 | Human | 4010 | Details Get a Quote |
| LMX1B Knockout HCT 116 Cell Line | EDJ-KQ26871 | Human | 4010 | Details Get a Quote |
| LMX1B Knockout HeLa Cell Line | EDJ-KQ53800 | Human | 4010 | Details Get a Quote |
| LMX1B Knockout A-549 Cell Line | EDJ-KQ62278 | Human | 4010 | Details Get a Quote |
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