BMPR1B

BMPR1B is a gene that provides instructions for making a protein that is involved in transmitting chemical signals from the cell surface to the cell's nucleus. This protein is part of a signaling pathway known as the transforming growth factor beta (TGF-β) superfamily pathway. The BMPR1B protein is found in various tissues in the body, including the brain, heart, and bones.

Function[edit | edit source]

The BMPR1B gene belongs to the bone morphogenetic protein receptor group of genes. It encodes a protein that is a member of the TGF-β superfamily. This group of proteins is involved in a variety of biological processes, including cell growth, differentiation, and apoptosis.

The BMPR1B protein is a type I receptor, which means it binds to a specific type of ligand and triggers a cascade of biochemical reactions within the cell. This signaling pathway is crucial for the development and maintenance of various tissues in the body.

Clinical significance[edit | edit source]

Mutations in the BMPR1B gene have been associated with a variety of medical conditions. For example, some mutations can lead to primary pulmonary hypertension, a condition characterized by high blood pressure in the arteries of the lungs. Other mutations can cause juvenile polyposis syndrome, a disorder characterized by the growth of numerous polyps in the gastrointestinal tract.

References[edit | edit source]

External links[edit | edit source]

BMPR1B at NCBI
BMPR1B at Genetics Home Reference

BMPR1B Resources
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