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Hintergrund
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Synonyms: Activin receptor like kinase 6,Acvrlk6,ALK 6,ALK6,alk6tr,BMP type-1B receptor,BMPR IB,BMPR-1B,Bmpr1b,BMPRIB,BMR1B,Bone morphogenetic protein receptor type 1B,Bone morphogenetic protein receptor type IB,Bone morphogenetic protein receptor type-1B,BR 1b,BR1b,CDw 293,CDw293,CDw293 antigen,CFK 43a,CFK43a,Serine/threonine receptor kinase,zALK 6,zALK6 Background: This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene.
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