ALK3
ALK3 is a type I receptor for the transforming growth factor-beta (TGF-β) family of ligands. It is also known as BMPR1A or bone morphogenetic protein receptor, type IA. ALK3 is encoded by the BMPR1A gene in humans.
Function[edit | edit source]
ALK3 is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of these receptors are part of the TGF-β superfamily. TGF-βs and BMPs are multifunctional proteins that regulate cell growth, differentiation, apoptosis, and other functions in many cell types.
ALK3 acts as a receptor for BMPs. Binding of BMPs to ALK3 leads to the activation of signal transduction pathways, such as the SMAD pathway, that mediate the biological effects of these proteins.
Clinical significance[edit | edit source]
Mutations in the BMPR1A gene are associated with juvenile polyposis syndrome, hereditary mixed polyposis syndrome, and colorectal cancer. ALK3 has also been implicated in the pathogenesis of some cardiovascular diseases, such as pulmonary arterial hypertension.
See also[edit | edit source]
References[edit | edit source]
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