AlphaFold predicted structure
LTBP3 · Q9NS15
Mean pLDDT
63.8/ 100
Low
1,303 residues
Confidence breakdown
- Very high(≥ 90)1%
- Confident(70–90)52%
- Low(50–70)16%
- Very low(< 50)32%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LTBP3
Chr 11q13.1latent transforming growth factor beta binding protein 3
- MANE:
- ENST00000301873.11
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalSkeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalThoracic aortic aneurysm or dissection (GMS)
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
brachyolmia-amelogenesis imperfecta syndrome
0.78geleophysic dysplasia
0.71osteoarthritis, hip
0.49type 2 diabetes mellitus
0.45diabetes mellitus
0.44gout
0.41otosclerosis
0.41Acromicric dysplasia
0.38glaucoma
0.34adult onset asthma
0.30
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 2
May play an integral structural role in elastic-fiber architectural organization and/or assembly