Gene TGFB1

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Also known as

Transforming Growth Factor Beta 1, TGF-beta-1, CED, DPD1, LAP

Overview

TGFB1 (Transforming Growth Factor Beta 1) encodes a multifunctional cytokine that plays critical roles in cell growth, differentiation, apoptosis, immune regulation, and tissue remodeling. TGF-beta1 is secreted as a latent complex that must be activated to bind its receptors and initiate signaling through SMAD proteins and other pathways. This cytokine exhibits context-dependent effects, acting as a growth inhibitor in normal epithelial cells while promoting tumor progression in advanced cancers. TGF-beta1 is essential for wound healing, extracellular matrix production, and maintaining immune homeostasis by regulating T cell differentiation and suppressing autoimmunity.

Genetic variants in TGFB1 have been associated with numerous conditions including fibrotic diseases, cardiovascular disorders, cancer susceptibility, and autoimmune conditions. Polymorphisms that increase TGF-beta1 production or activity may enhance fibrosis risk in organs such as the lungs, liver, and kidneys, while also affecting wound healing and scar formation. In the context of skin health, TGF-beta1 plays a dual role: it is essential for wound repair and collagen synthesis but can also contribute to excessive scarring, keloid formation, and aging-related changes. Understanding individual TGFB1 genetics may inform personalized approaches to managing fibrotic conditions, optimizing wound healing, and developing anti-aging skincare strategies.

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