BMPR2


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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 ?
BMPR2 geni kromozom 2q31 -31 bolgesinde yer almakta olup, 13 eksona sahiptir.
Ailesinde PAH olan veya BMPR2 mutasyonu tasiyan olgularin klinik izlemine dair bir gorus birligi yoktur.
Gebeligin onuncu haftasinda korionik villus'lerden alinan orneklerde BMPR2 mutasyonu calisilabilmektedir.
BMPR2 yapisal olarak aktif serin/treonin kinaz reseptorudur.
BMPR2 mutasyonu ile akciger dokusunda BMPR II protein ekspresyonu tahminen polipeptit zincirin kirpilmasi nedeniyle ciddi duzeyde azahr (13).
Gunumuze kadar toplamda 298 BMPR2 mutasyonu tammlanmis.
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.
BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.