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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LMX1B
LIM homeobox transcription factor 1 beta
Chromosome 9 Β· 9q33.3
NCBI Gene: 4010Ensembl: ENSG00000136944.19HGNC: HGNC:6654UniProt: B7ZLH2
97PubMed Papers
22Diseases
0Drugs
149Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of DNA-templated transcriptionsequence-specific double-stranded DNA bindingnucleusDNA-binding transcription factor activitynail-patella syndromenail-patella-like renal diseasefocal segmental glomerulosclerosisopen-angle glaucoma
✦AI Summary

LMX1B is a LIM-homeodomain transcription factor that plays critical roles in development and disease pathogenesis across multiple organ systems. The protein functions as a sequence-specific DNA-binding transcription factor that regulates gene expression in diverse developmental contexts 1. LMX1B is essential for dorsal limb pattern formation, where it specifies dorsal limb fate at zeugopodal and autopodal levels 2. In the nervous system, LMX1B is important for dopaminergic neuron development in the midbrain, contributing to the mesencephalic dopaminergic system alongside other transcription factors like Nurr1 and Pitx3 3. In kidney development, LMX1B is crucial for podocyte differentiation and maintenance, regulating glomerular basement membrane collagen expression and genes associated with the actin cytoskeleton 24. Loss-of-function mutations in LMX1B cause nail-patella syndrome, an autosomal dominant disorder characterized by dysplastic nails, absent/hypoplastic patellae, and renal involvement that can progress to chr9 kidney failure 5. Some mutations specifically affecting the homeodomain cause isolated nephropathy without skeletal abnormalities, termed LMX1B-associated nephropathy 5. Recent studies also implicate LMX1B in inflammatory responses, with knockdown suppressing apoptosis and inflammation in osteoarthritis models 6.

Sources cited
1
LMX1B is a LIM-homeodomain transcription factor required for normal development of multiple structures
PMID: 15498463
2
LMX1B is essential for dorsal limb pattern formation and podocyte development
PMID: 28681095
3
LMX1B is important for dopaminergic neuron development in the midbrain
PMID: 15743669
4
LMX1B regulates glomerular basement membrane collagen expression by podocytes
PMID: 23046462
5
LMX1B mutations cause nail-patella syndrome and isolated nephropathy
PMID: 27450397
6
LMX1B knockdown suppresses apoptosis and inflammation in osteoarthritis models
PMID: 36133743
Disease Associationsβ“˜22
nail-patella syndromeOpen Targets
0.85Strong
nail-patella-like renal diseaseOpen Targets
0.72Strong
focal segmental glomerulosclerosisOpen Targets
0.64Moderate
open-angle glaucomaOpen Targets
0.56Moderate
glaucomaOpen Targets
0.56Moderate
osteoarthritis, hipOpen Targets
0.54Moderate
obesityOpen Targets
0.48Moderate
genetic disorderOpen Targets
0.47Moderate
osteoarthritis, kneeOpen Targets
0.47Moderate
total hip arthroplastyOpen Targets
0.45Moderate
Abnormality of the skeletal systemOpen Targets
0.45Moderate
breast carcinomaOpen Targets
0.41Moderate
breast cancerOpen Targets
0.41Moderate
medical procedureOpen Targets
0.40Weak
kidney failureOpen Targets
0.37Weak
ProteinuriaOpen Targets
0.37Weak
morbid obesityOpen Targets
0.37Weak
exfoliation syndromeOpen Targets
0.34Weak
inherited focal segmental glomerulosclerosisOpen Targets
0.34Weak
osteoarthritisOpen Targets
0.34Weak
Focal segmental glomerulosclerosis 10UniProt
Nail-patella syndromeUniProt
Pathogenic Variants149
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met)Pathogenic
not provided|Nail-patella syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 262
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)Pathogenic
Nail-patella syndrome|not provided|Inborn genetic diseases|Autosomal recessive Alport syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 231
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)Pathogenic
Nail-patella syndrome|not provided|Nail-patella syndrome;Nail-patella-like renal disease
β˜…β˜…β˜†β˜†2025β†’ Residue 236
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln)Pathogenic
Nail-patella syndrome|not provided|LMX1B-related disorder|Nail-patella syndrome;Nail-patella-like renal disease
β˜…β˜…β˜†β˜†2025β†’ Residue 223
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)Pathogenic
LMX1B-related disorder|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 223
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter)Pathogenic
not provided|Nail-patella syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 246
NM_001174147.2(LMX1B):c.229C>T (p.His77Tyr)Pathogenic
not provided|Nail-patella-like renal disease
β˜…β˜…β˜†β˜†2025β†’ Residue 77
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter)Pathogenic
Nail-patella syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 249
NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)Pathogenic
Nail-patella syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 87
NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)Pathogenic
Nail-patella syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 102
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys)Pathogenic
not provided|Nail-patella syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 261
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter)Pathogenic
Nail-patella syndrome|not provided|Nail-patella syndrome;Nail-patella-like renal disease
β˜…β˜…β˜†β˜†2025β†’ Residue 82
NM_001174147.2(LMX1B):c.838_853delinsAGCAGCAGGAGCAGCAGCAGGAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCAGG (p.Arg280fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 280
NM_001174147.2(LMX1B):c.445C>T (p.Gln149Ter)Pathogenic
not provided|Nail-patella syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 149
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter)Pathogenic
Nail-patella syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 221
NM_001174147.2(LMX1B):c.746G>A (p.Arg249Gln)Pathogenic
Nail-patella-like renal disease;Nail-patella syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 249
NM_001174147.2(LMX1B):c.207dup (p.Arg70fs)Pathogenic
not provided|Nail-patella syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 70
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys)Pathogenic
Nail-patella syndrome|not provided|Nail-patella syndrome;Nail-patella-like renal disease
β˜…β˜…β˜†β˜†2024β†’ Residue 269
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)Pathogenic
Nail-patella syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 57
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)Pathogenic
not provided|Nail-patella syndrome|Nephrotic syndrome|Nail-patella-like renal disease|Nail-patella syndrome;Nail-patella-like renal disease|Inherited focal segmental glomerulosclerosis|LMX1B-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 246
View on ClinVar β†—
Related Genes
PBX1Protein interaction100%MEIS2Protein interaction99%LDB1Protein interaction95%PAX2Protein interaction88%NKX2-2Protein interaction87%MAB21L1Protein interaction87%
Tissue Expression6 tissues
Heart
100%
Ovary
16%
Liver
16%
Lung
15%
Brain
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
LMX1BPBX1MEIS2LDB1PAX2NKX2-2MAB21L1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60663
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.15–0.41]
RankingsWhere LMX1B stands among ~20K protein-coding genes
  • #4,947of 20,598
    Most Researched97 Β· top quartile
  • #508of 5,498
    Most Pathogenic Variants149 Β· top 10%
  • #2,091of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedLMX1B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Dopaminergic neurons.
PMID: 15743669
Int J Biochem Cell Biol Β· 2005
1.00
2
Nail-patella syndrome.
PMID: 28681095
Pflugers Arch Β· 2017
0.90
3
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
PMID: 15498463
Genomics Β· 2004
0.80
4
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
PMID: 27450397
Pediatr Nephrol Β· 2017
0.70
5
Collagenofibrotic Glomerulopathy.
PMID: 33055489
Intern Med Β· 2021
0.60