BMPR1B explained

Bone morphogenetic protein receptor type-1B also known as CDw293 (cluster of differentiation w293) is a protein that in humans is encoded by the BMPR1B gene.[1] [2]

Function

BMPR1B is 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.[3]

The BMPR1B receptor plays a role in the formation of middle and proximal phalanges.[4]

Clinical significance

Mutations in this gene have been associated with primary pulmonary hypertension.[3]

In the chick embryo, it has been shown that BMPR1B is found in precartilaginous condensations.[5] BMPR1B is the major transducer of signals in these condensations as demonstrated in experiments using constitutively active BMPR1B receptors.[5] BMPR1B is a more effective transducer of GDF5 than BMPR1A.[5] Unlike BMPR1A null mice, which die at an early embryonic stage, BMPR1B null mice are viable.[5]

Notes and References

  1. ten Dijke P, Yamashita H, Ichijo H, Franzén P, Laiho M, Miyazono K, Heldin CH . Characterization of type I receptors for transforming growth factor-beta and activin . Science . 264 . 5155 . 101–4 . April 1994 . 8140412 . 10.1126/science.8140412. 1994Sci...264..101T .
  2. Ide H, Saito-Ohara F, Ohnami S, Osada Y, Ikeuchi T, Yoshida T, Terada M . Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23→q24 byin situ hybridization and radiation hybrid map ping . Cytogenet. Cell Genet. . 81 . 3–4 . 285–6 . 1998 . 9730621 . 10.1159/000015048. 46751090 .
  3. Web site: Entrez Gene: bone morphogenetic protein receptor.
  4. Yuji Mishina . Mishina Y, Starbuck MW, Gentile MA, Fukuda T, Kasparcova V, Seedor JG, Hanks MC, Amling M, Pinero GJ, Harada S, Behringer RR . Bone morphogenetic protein type IA receptor signaling regulates postnatal osteoblast function and bone remodeling . J. Biol. Chem. . 279 . 26 . 27560–6 . 2004 . 15090551 . 10.1074/jbc.M404222200 . free .
  5. Yoon BS, Ovchinnikov DA, Yoshii I, Mishina Y, Behringer RR, Lyons KM . Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo . Proc. Natl. Acad. Sci. U.S.A. . 102 . 14 . 5062–7 . 2005 . 15781876 . 10.1073/pnas.0500031102 . 555995 . 2005PNAS..102.5062Y . free .