TBRG1

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Description

The TBRG1 (transforming growth factor beta regulator 1) is a protein-coding gene located on chromosome 11.

Transforming growth factor beta regulator 1 is a protein that in humans is encoded by the TBRG1 gene.

TBRG1 acts as a growth inhibitor, activating p53/TP53 and causing G1 arrest. It collaborates with CDKN2A to restrict proliferation but can independently inhibit DNA synthesis. TBRG1 redistributes CDKN2A into the nucleoplasm and plays a role in maintaining chromosomal stability.

TBRG1 is also known as NIAM, TB-5.

Associated Diseases

• cancer
• schizophrenia
• Li-Fraumeni syndrome
• erythroleukemia, familial, susceptibility to
• familial atypical multiple mole melanoma syndrome
• hereditary neutrophilia
• BAP1-related tumor predisposition syndrome
• autoimmune lymphoproliferative syndrome type 4
• idiopathic hypereosinophilic syndrome
• combined immunodeficiency due to OX40 deficiency
• alpha-thalassemia-myelodysplastic syndrome
• immunodeficiency 76
• Marfan syndrome
• Weill-Marchesani syndrome