Gene: BMP1

Alternate names for this Gene: OI13|PCOLC|PCP|PCP2|TLD

Gene Summary: This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.3

Description of this Gene: bone morphogenetic protein 1

Type of Gene: protein-coding

rs6984210 in BMP1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs318240762 in BMP1 gene and OSTEOGENESIS IMPERFECTA, TYPE XIII PMID 22052668 2012 Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.

PMID 25402547 2015 Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

PMID 22482805 2012 Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.