Gene BMPR1A

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Also known as

ALK3, SKR5, CD292, bone morphogenetic protein receptor type 1A

Overview

BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) encodes a transmembrane serine/threonine kinase receptor that binds bone morphogenetic proteins (BMPs). This receptor is essential for BMP signaling, which regulates cell proliferation, differentiation, and apoptosis in multiple tissues including bone, cartilage, and the gastrointestinal tract.

Germline mutations in BMPR1A are associated with juvenile polyposis syndrome (JPS), an inherited condition characterized by multiple hamartomatous polyps in the gastrointestinal tract that significantly increases colorectal cancer risk. BMPR1A mutations account for approximately 20-25% of JPS cases, with SMAD4 mutations accounting for another portion.

Understanding your BMPR1A genetic status is important for hereditary cancer risk assessment. Individuals with pathogenic BMPR1A variants require regular colonoscopic surveillance beginning in adolescence. Genetic counseling is recommended for families with juvenile polyposis syndrome to identify at-risk relatives.

NutraHacker Raw DNA Analysis Products that include this gene

Upload raw DNA data to get your very own analysis of gene BMPR1A through your personalized DNA reports.