AlphaFold predicted structure
LTBP1 · Q14766
Mean pLDDT
58.9/ 100
Low
1,721 residues
Confidence breakdown
- Very high(≥ 90)1%
- Confident(70–90)48%
- Low(50–70)10%
- Very low(< 50)41%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
LTBP1
Chr 2p22.3latent transforming growth factor beta binding protein 1
- MANE:
- ENST00000404816.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalEhlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
autosomal recessive cutis laxa type 2
0.51Abnormality of the skeletal system
0.50diverticular disease
0.48osteoarthritis, knee
0.46osteoarthritis, hip
0.44arthropathy
0.44osteoarthritis
0.41carpal tunnel syndrome
0.40autosomal recessive cutis laxa type 1
0.38craniosynostosis
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Latent-transforming growth factor beta-binding protein 1
Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, PubMed:8617200, PubMed:8939931). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:15184403, PubMed:8617200, PubMed:8939931). Outcompeted by LRRC32/GARP for binding to LAP regulatory chain of TGF-beta (PubMed:22278742)
Diseases associated with LTBP1
Curated MONDO disease pages that list LTBP1 among their top associated genes.