Acromesomelic chondrodysplasia with genital anomalies Online 'Mendelian Inheritance in Man' (OMIM) 609441; Brachydactyly type A2 (BDA2) Online 'Mendelian Inheritance in Man' (OMIM) 112600
The BMPR1B receptor plays a role in the formation of middle and proximal phalanges [1] In the chick embryo, it has been shown that BMPR1B is found in precartilaginous condensations.[2] BMPR1B is the major transducer of signals in these condensations as demonstrated in experiments using constitutively active BMPR1B receptors[2]. BMPR1B is a more effective trasducer of GDF5 than BMPR1A[2]. Unlike BMPR1A null mice, which die at an early embryonic stage, BMPR1B null mice are viable[2].
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Identifiers
Symbol
BMPR1B
Entrez
658
HUGO
1077
OMIM
603248
RefSeq
NM_001203
UniProt
O00238
Other data
References
^ Mishina, Y; Starbuck MW, Gentile MA, Fukuda T, Kasparcova V, Seedor JG, Hanks MC, Amling M, Pinero GJ, Harada S, Behringer RR (Jun 2004). "Bone morphogenetic protein type IA receptor signaling regulates postnatal osteoblast function and bone remodeling". J Biol Chem.279 (26). Entrez PubMed 15090551. Retrieved on 2006-07-03.
^ abcd Yoon, BS; Ovchinnikov DA, Yoshii I, Mishina Y, Behringer RR, Lyons KM. (Apr 2005). "Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo". Proc Natl Acad Sci U S A.102 (14). Entrez PubMed 15781876. Retrieved on 2006-07-03.