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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LTBP1
latent transforming growth factor beta binding protein 1
Chromosome 2 · 2p22.3
NCBI Gene: 4052Ensembl: ENSG00000049323.16HGNC: HGNC:6714UniProt: B7ZLY3
150PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixprotein bindingtransforming growth factor beta bindingmicrofibril bindingAbnormality of the skeletal systemautosomal recessive cutis laxa type 2diverticular diseaseosteoarthritis, knee
✦AI Summary

LTBP1 (latent transforming growth factor beta binding protein 1) is a key extracellular matrix regulator that controls TGF-β activation by maintaining it in a latent, inactive state 1. LTBP1 associates specifically with the latency-associated peptide (LAP) via disulfide bonds, forming large latent complexes that sequester TGF-β in the extracellular space and regulate integrin-dependent TGF-β activation 1. Beyond TGF-β regulation, LTBP1 participates in microfibril assembly and extracellular matrix organization, and its expression levels serve as markers of disease progression in cardiovascular and fibrotic conditions 23. Clinically, LTBP1 dysregulation is implicated in multiple pathologies. In atherosclerosis, LTBP1 marks fibromyocyte/fibrochondrogenic smooth muscle cell phenotypes associated with disease progression 2. Excessive LTBP1 expression promotes lung fibrosis through collagen deposition and TGF-β signaling activation 3. In postischemic stroke epilepsy, LTBP1 upregulation stimulates epileptic cell proliferation via TGF-β/SMAD pathway activation and inflammation 4. In hepatocellular carcinoma, LTBP1 elevation through HNRNPA1 dysregulation increases TGF-β secretion and promotes tumor progression and immunotherapy resistance 5. Conversely, LTBP1 lactylation enhances collagen synthesis in skin fibroblasts, supporting tissue rejuvenation 6. Mutations affecting LTBP1 binding to fibrillin-1 impair TGF-β signaling and contribute to aortic dissection pathology 7.

Sources cited
1
LTBP1 maintains TGF-β in latent state via disulfide bond association with LAP, regulates integrin-dependent TGF-β activation, and participates in microfibril biology
PMID: 25960419
2
LTBP1 serves as a marker of fibromyocyte/fibrochondrogenic smooth muscle cell phenotypes in atherosclerosis progression
PMID: 37950869
3
LTBP1 undergoes hyperhydroxylation during collagen trafficking inhibition in lung fibrosis models
PMID: 39693409
4
LTBP1 upregulation promotes epileptic cell proliferation through TGF-β/SMAD1/5/8 pathway activation and MMP-13-mediated inflammation
PMID: 35676846
5
LTBP1 upregulation via HNRNPA1 dysregulation increases TGF-β secretion, promoting hepatocellular carcinoma progression and immunotherapy resistance
PMID: 40056904
6
LTBP1 undergoes KAT8-mediated lactylation at lysine 752, promoting collagen synthesis in skin fibroblasts
PMID: 39102921
7
FBN1 mutations impair LTBP1 binding, reducing TGF-β signaling and contributing to aortic dissection pathology
PMID: 40365676
Disease Associationsⓘ21
Abnormality of the skeletal systemOpen Targets
0.51Moderate
autosomal recessive cutis laxa type 2Open Targets
0.51Moderate
diverticular diseaseOpen Targets
0.49Moderate
osteoarthritis, kneeOpen Targets
0.48Moderate
osteoarthritis, hipOpen Targets
0.46Moderate
joint diseaseOpen Targets
0.44Moderate
osteoarthritisOpen Targets
0.44Moderate
carpal tunnel syndromeOpen Targets
0.41Moderate
ArthropathyOpen Targets
0.41Moderate
autosomal recessive cutis laxa type 1Open Targets
0.37Weak
brachydactylyOpen Targets
0.37Weak
ClinodactylyOpen Targets
0.37Weak
craniosynostosisOpen Targets
0.37Weak
inherited cutis laxaOpen Targets
0.37Weak
syndactylyOpen Targets
0.37Weak
open-angle glaucomaOpen Targets
0.35Weak
complicationOpen Targets
0.32Weak
medical procedureOpen Targets
0.32Weak
trauma complicationOpen Targets
0.32Weak
duodenitisOpen Targets
0.32Weak
Cutis laxa, autosomal recessive, 2EUniProt
Pathogenic Variants7
NM_206943.4(LTBP1):c.2168-1G>TPathogenic
Cutis laxa, autosomal recessive, type 2E
★☆☆☆2025
NM_206943.4(LTBP1):c.4270+2T>CLikely pathogenic
not provided
★☆☆☆2022
NM_206943.4(LTBP1):c.4793_4794del (p.Glu1598fs)Likely pathogenic
Cutis laxa, autosomal recessive, type 2E
★☆☆☆2021→ Residue 1598
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)Likely pathogenic
Cutis laxa, autosomal recessive, type 2E
★☆☆☆2021→ Residue 448
NM_206943.4(LTBP1):c.4844del (p.Asn1615fs)Pathogenic
Cutis laxa, autosomal recessive, type 2E
☆☆☆☆2025→ Residue 1615
NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter)Pathogenic
Cutis laxa, autosomal recessive, type 2E
☆☆☆☆2025→ Residue 1477
NM_206943.4(LTBP1):c.3991dup (p.Thr1331fs)Pathogenic
Cutis laxa, autosomal recessive, type 2E
☆☆☆☆2025→ Residue 1331
View on ClinVar ↗
Related Genes
INHBCShared pathway100%FBN1Protein interaction100%TGFB1Protein interaction100%LTBP3Protein interaction100%TGFB3Protein interaction99%THBS1Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
23%
Ovary
15%
Bone Marrow
13%
Brain
8%
Liver
7%
Gene Interaction Network
Click a node to explore
LTBP1INHBCFBN1TGFB1LTBP3TGFB3THBS1
PROTEIN STRUCTURE
Preparing viewer…
PDB1KSQ · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.54–0.73]
RankingsWhere LTBP1 stands among ~20K protein-coding genes
  • #3,021of 20,598
    Most Researched150 · top quartile
  • #3,169of 5,498
    Most Pathogenic Variants7
  • #5,686of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedLTBP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative single-cell meta-analysis reveals disease-relevant vascular cell states and markers in human atherosclerosis.
PMID: 37950869
Cell Rep · 2023
1.00
2
Dextromethorphan inhibits collagen and collagen-like cargo secretion to ameliorate lung fibrosis.
PMID: 39693409
Sci Transl Med · 2024
0.90
3
LTBP1 Gene Expression in the Cerebral Cortex and its Neuroprotective Mechanism in Mice with Postischemic Stroke Epilepsy.
PMID: 35676846
Curr Pharm Biotechnol · 2023
0.80
4
LTA4H improves the tumor microenvironment and prevents HCC progression via targeting the HNRNPA1/LTBP1/TGF-β axis.
PMID: 40056904
Cell Rep Med · 2025
0.70
5
Novel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration.
PMID: 40365676
Circ Res · 2025
0.60