DefinitionThis section has been translated automatically.
The BMPR2 gene (BMPR2 is the acronym for: Bone Morphogenetic Protein Receptor Type 2) is a protein-coding gene located on chromosome 2q33.1-q33.2. The BMPR2 gene encodes a member of the transmembrane serine/threonine kinase family of bone morphogenetic protein (BMP) receptors.
The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transmit their signals by forming heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene are associated with primary pulmonary hypertension (both familial and fenfluramine-associated), and with autosomal dominant pulmonary veno-occlusive disease.
General informationThis section has been translated automatically.
The receptor proteins Bmpr2 and Acvr2a (see Acvr2a gene below) influence hair pigmentation. Animal experiments have shown that reduced activity of Bmpr2 and Acvr2 leads to early graying (Han R et al. 2012).
LiteratureThis section has been translated automatically.
- Han R et al. (2012) Apair of transmembrane receptors essential for the retention and pigmentation of hair. Genesis 50:783-800.
