TGFB1
Chr 19ARADtransforming growth factor beta 1
Also known as: CAEND1, CED, DPD1, IBDIMDE, LAP, TGF-beta1, TGFB, TGFbeta
This gene encodes transforming growth factor beta-1, a secreted signaling molecule that regulates cell proliferation, differentiation, and growth through TGF-beta receptors and SMAD transcription factors. Mutations cause Camurati-Engelmann disease (a progressive bone dysplasia), inflammatory bowel disease with immunodeficiency and encephalopathy, and modify cystic fibrosis lung disease severity. The gene exhibits both autosomal dominant and autosomal recessive inheritance patterns depending on the specific condition.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The Badonyi & Marsh model scores dominant-negative highest, but genomic evidence most strongly supports loss-of-function (haploinsufficiency) as the primary mechanism.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TGFB1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Metformin for People With CFRD on CFTR Modulator Therapy to Improve Ion Channel Function
RECRUITINGAdipose Tissue and Inflammation in Coronary Heart Disease
ACTIVE NOT RECRUITINGAronia and Non-alcoholic Fatty Liver Disease
NOT YET RECRUITINGTGF-beta Resistant Cytotoxic T-lymphocytes in Treatment of EBV-positive Nasopharyngeal Carcinoma / RESIST-NPC
ACTIVE NOT RECRUITINGDeucravacitinib in the Treatment of Cicatricial Alopecias
NOT YET RECRUITINGDiet Impact on Hepatic Transcriptomics and Lipidomics in Pre-diabetes
ACTIVE NOT RECRUITINGGenetically Modified T-Cells Followed by Aldesleukin in Treating Patients With Stage III-IV Melanoma
ACTIVE NOT RECRUITINGPulmonary Immune Cell-microbiome Interactions in the Healthy Lung
RECRUITINGButyric Acid Supplementation for Gut Improvement After Cardiac Surgery in Kids
NOT YET RECRUITINGCharacterizing Matrix Metalloproteinase-12 (MMP12) in Sputum
RECRUITINGHigher Per Daily Treatment-Dose Radiation Therapy or Standard Per Daily Treatment Radiation Therapy in Treating Patients With Early-Stage Breast Cancer That Was Removed by Surgery
ACTIVE NOT RECRUITINGA-TANGO Phase 2 Study
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools