BMP1

Chr 8AR

bone morphogenetic protein 1

Also known as: OI13, PCOLC, PCP, TLD

NCBI Gene: 649 ENSG00000168487 UniProt: P13497 OMIM: 112264

This metalloprotease processes extracellular matrix precursor proteins including procollagens I, II, and III and activates lysyl oxidase, which is essential for collagen cross-linking and proper bone and cartilage formation. Biallelic mutations cause autosomal recessive osteogenesis imperfecta type XIII, characterized by bone fragility and skeletal deformities. The gene is highly constrained against loss-of-function variation (LOEUF 0.456), indicating that complete loss of protein function is likely not tolerated.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Aug 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Osteogenesis imperfecta, type XIIIMIM #614856

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — BMP1