LTBP4

Chr 19q13.2

latent transforming growth factor beta binding protein 4

Aliases:: LTBP-4, LTBP-4L, FLJ46318, FLJ90018
MANE:: ENST00000396819.8

OMIM: 604710 ↗NCBI: 8425 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LTBP4 · Q8N2S1

v62025-08-01

Predicted Aligned Error matrix for LTBP4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.5/ 100

Low

1,624 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)50%
Low(50–70)17%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ehlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis
Pneumothorax - familial
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
0.74
Duchenne muscular dystrophy
0.42
aortic aneurysm
0.41
smoking initiation
0.35
abdominal aortic aneurysm
0.33
mathematical ability
0.32
thoracic aortic aneurysm
0.30
cutis laxa
0.27
Hernia
0.25
Inguinal hernia
0.24

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 4

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. 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