BMP1 gene

bone morphogenetic protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX.

From NCBI Gene:

  • Osteogenesis imperfecta, type xiii

From UniProt:

Osteogenesis imperfecta 13 (OI13): An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. [MIM:614856]

Cytogenetic Location: 8p21.3, which is the short (p) arm of chromosome 8 at position 21.3

Molecular Location: base pairs 22,165,140 to 22,212,326 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p21.3, which is the short (p) arm of chromosome 8 at position 21.3
  • OI13
  • PCOLC
  • PCP
  • PCP2
  • TLD