BMPR2

(redirected from Bone morphogenetic protein receptor type II)

BMPR2

A gene on chromosome 2q33-q34 that encodes a member of the bone morphogenetic protein (BMP)-receptor family of transmembrane serine/threonine kinases, which binds BMPs and plays a central role in endochondral bone formation and embryogenesis. Type-II receptors bind ligands in the absence of type-I receptors, but require their respective type-I receptors for signalling. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate then bind and activate SMAD transcriptional regulators.

Molecular pathology
BMPR2 mutations are associated with familial and fenfluramine-associated primary pulmonary hypertension and with pulmonary venoocclusive disease.
References in periodicals archive ?
Newman and Loyd were selected for their outstanding contributions to PAH patient care and clinical research, being among the discoverers of the bone morphogenetic protein receptor type II (BMPR-2) mutation, now linked to the genetic disorder idiopathic pulmonary arterial hypertension (IPAH), and the founders of one of the leading PAH programs in the world.

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