Full name: bone morphogenetic protein 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: Pcp; Tld

Summary: This gene encodes a metalloproteinase that plays an essential role in the formation of the extracellular matrix and is also able to induce ectopic bone formation. Unlike other bone morphogenetic proteins, the protein encoded by this gene is not closely related to transforming growth factor-beta. This protein plays in role several developmental processes. In humans, mutations in this gene are associated with osteogenesis imperfecta and with increased bone mineral density and multiple recurrent fractures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Expression: Ubiquitous expression in limb E14.5 (RPKM 81.0), ovary adult (RPKM 50.8) and 25 other tissues

Gene size: 46286bp

Exon count: 21