TGFBR1 Gene

The TGFBR1 gene (TGFBR1 stands for "Transforming Growth Factor Beta Receptor 1") is a protein coding gene located on chromosome 9q22.33. Several transcript variants encoding different isoforms have been found for this gene.

The protein encoded by this gene, Activin Receptor-Like Kinase 5, is a serine/threonine protein kinase characterized by transfer of phosphorus-containing groups. It forms, after binding to TGF-beta, a heteromeric complex with type II TGF-beta receptors. This transmits the TGF-beta signal from the cell surface to the cytoplasm.

This regulates a variety of physiological and pathological processes, including cell cycle arrest in epithelial and hematopoietic cells, control of proliferation and differentiation of mesenchymal cells, wound healing, extracellular matrix production, immunosuppression, and carcinogenesis.

Diseases associated with TGFBR1 include:

• "familial keratoacanthomas" (Multiple self-healing squamous epithelioma, susceptible to; OMIM: 132800)
• and
• Loeys-Dietz aortic aneurysm syndrome (LDAS).

Associated pathways include the NF-kappaB pathway and cytokine production by Th17 cells. People with Loeys-Dietz syndrome often develop immunological disorders: food allergies, asthma or signs of atopic dermatitis or inflammatory bowel disease. There are overlaps with the hyper-IgE syndrome.

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