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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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LTBP4
latent transforming growth factor beta binding protein 4
Chromosome 19 · 19q13.2
NCBI Gene: 8425Ensembl: ENSG00000090006.18HGNC: HGNC:6717UniProt: A0A0C4DH07
79PubMed Papers
22Diseases
0Drugs
72Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular regionprotein bindingextracellular matrixtransforming growth factor beta bindingcutis laxa with severe pulmonary, gastrointestinal and urinary anomaliesDuchenne muscular dystrophyaortic aneurysmAbdominal Aortic Aneurysm
✦AI Summary

LTBP4 is a key extracellular matrix protein that regulates transforming growth factor-beta (TGF-β) signaling by maintaining it in a latent state through disulfide bond interactions with the latency-associated peptide 1. Beyond TGF-β regulation, LTBP4 exhibits TGF-β-independent activities in stabilizing microfibril bundles and regulating elastic fiber assembly 1. LTBP4 protects against renal fibrosis by maintaining mitochondrial function and promoting angiogenesis; LTBP4 deficiency increases acute kidney injury severity and progression to chr19 kidney disease through increased mitochondrial fragmentation, oxidative stress, and inflammation 2. In Duchenne muscular dystrophy (DMD), LTBP4 emerges as a critical disease modifier; specific LTBP4 polymorphisms associate with ambulation outcomes, with the hinge region regulating TGF-β release and fibrosis development 34. LTBP4 SNP rs10880 predicts loss of ambulation in DMD patients 5. Additionally, LTBP4 is prioritized at aortic diameter genome-wide association loci in fibroblasts 6, and its dysregulation in blood associates with spinocerebellar ataxia type 3 disease progression 7. Mutations in LTBP4 cause autosomal recessive cutis laxa type 1C, characterized by skin laxity, pulmonary emphysema, and cardiac valve disease 8.

Sources cited
1
LTBP4 forms latent complexes with TGF-β and has roles in microfibril biology and elastic fiber assembly
PMID: 25960419
2
LTBP4 protects against renal fibrosis via mitochondrial function and angiogenesis; deficiency increases AKI severity
PMID: 37232163
3
LTBP4 hinge region regulates TGF-β release and fibrosis in DMD; identified as therapeutic target
PMID: 29481844
4
LTBP4 polymorphisms modulate DMD disease severity; Givinostat efficacy depends on LTBP4 genotype
PMID: 34294164
5
LTBP4 SNP rs10880 associates with loss of ambulation in DMD patients
PMID: 38669554
6
LTBP4 is prioritized at aortic diameter GWAS loci in fibroblasts
PMID: 36172868
7
LTBP4 dysregulation in blood associates with spinocerebellar ataxia type 3 disease progression
PMID: 37071051
8
LTBP4 mutations cause autosomal recessive cutis laxa type 1C with skin, pulmonary, and cardiac manifestations
PMID: 34071145
Disease Associationsⓘ22
cutis laxa with severe pulmonary, gastrointestinal and urinary anomaliesOpen Targets
0.75Strong
Duchenne muscular dystrophyOpen Targets
0.42Moderate
aortic aneurysmOpen Targets
0.41Moderate
Abdominal Aortic AneurysmOpen Targets
0.34Weak
mathematical abilityOpen Targets
0.32Weak
thoracic aortic aneurysmOpen Targets
0.32Weak
smoking initiationOpen Targets
0.30Weak
HerniaOpen Targets
0.27Weak
cutis laxaOpen Targets
0.27Weak
Inguinal herniaOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
Hernia of the abdominal wallOpen Targets
0.09Suggestive
dilated cardiomyopathyOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
Duchenne muscular dystrophyUniProt
Urban-Rifkin-Davis syndromeUniProt
Pathogenic Variants72
NM_003573.2(LTBP4):c.254del (p.Leu85fs)Pathogenic
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies|not provided
★★☆☆2026→ Residue 85
NM_001042545.2(LTBP4):c.1307-2A>GLikely pathogenic
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies|not provided|LTBP4-related disorder
★★☆☆2025
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)Pathogenic
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies|not provided
★★☆☆2025→ Residue 677
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs)Pathogenic
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies|not provided
★★☆☆2023→ Residue 1347
NM_001042545.2(LTBP4):c.2071C>T (p.Arg691Ter)Pathogenic
not provided
★★☆☆2023→ Residue 691
NM_001042545.2(LTBP4):c.1401G>A (p.Trp467Ter)Pathogenic
not provided
★☆☆☆2026→ Residue 467
NM_003573.2(LTBP4):c.338del (p.Pro113fs)Pathogenic
not provided
★☆☆☆2025→ Residue 113
NM_003573.2(LTBP4):c.75+1G>TLikely pathogenic
not provided
★☆☆☆2025
NM_001042545.2(LTBP4):c.1684+2T>ALikely pathogenic
not provided
★☆☆☆2025
NM_003573.2(LTBP4):c.76-2A>CLikely pathogenic
not provided
★☆☆☆2025
NM_001042545.2(LTBP4):c.4023dup (p.Ala1342fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1342
NM_001042545.2(LTBP4):c.3994G>T (p.Glu1332Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 1332
NM_003573.2(LTBP4):c.75+2T>GLikely pathogenic
not provided
★☆☆☆2025
NM_001042545.2(LTBP4):c.2440G>T (p.Glu814Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 814
NM_001042545.2(LTBP4):c.457dup (p.Val153fs)Pathogenic
not provided
★☆☆☆2025→ Residue 153
NM_001042545.2(LTBP4):c.946_947del (p.Cys316fs)Pathogenic
not provided
★☆☆☆2025→ Residue 316
NM_003573.2(LTBP4):c.109C>T (p.Arg37Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 37
NM_001042545.2(LTBP4):c.4254dup (p.Ser1419fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1419
NM_001042545.2(LTBP4):c.3650_3651insTGCAG (p.Tyr1218fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1218
NM_001042545.2(LTBP4):c.383del (p.Pro128fs)Pathogenic
not provided
★☆☆☆2025→ Residue 128
View on ClinVar ↗
Related Genes
LTBP3Protein interaction100%TGFB1Protein interaction100%TGFB2Protein interaction100%TGFB3Protein interaction100%INHBCShared pathway25%LTBP1Shared pathway25%
Tissue Expression6 tissues
Ovary
100%
Lung
55%
Heart
29%
Liver
10%
Bone Marrow
4%
Brain
3%
Gene Interaction Network
Click a node to explore
LTBP4LTBP3TGFB1TGFB2TGFB3INHBCLTBP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N2S1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.52–0.73]
RankingsWhere LTBP4 stands among ~20K protein-coding genes
  • #6,006of 20,598
    Most Researched79
  • #1,019of 5,498
    Most Pathogenic Variants72 · top quartile
  • #5,722of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedLTBP4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
PMID: 37232163
Circ Res · 2023
1.00
2
LTBP4 in Health and Disease.
PMID: 34071145
Genes (Basel) · 2021
0.90
3
PMID: 26866239
0.80
4
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
PMID: 38669554
J Neuromuscul Dis · 2024
0.70
5
Aortic Cellular Diversity and Quantitative Genome-Wide Association Study Trait Prioritization Through Single-Nuclear RNA Sequencing of the Aneurysmal Human Aorta.
PMID: 36172868
Arterioscler Thromb Vasc Biol · 2022
0.60