From NCBI Gene: Osteogenesis imperfecta type 12From UniProt: Osteogenesis imperfecta 6 (OI6): A 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. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification. [MIM:613982]

     From NCBI Gene: This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016] From UniProt: Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.

The following transcription factors affect gene expression:

• PPAR-gamma1
• PPAR-gamma2
• p53
• CREB
• deltaCREB
• STAT3

Tissue specificity:

Retinal pigment epithelial cells and blood plasma.

Developmental stage:

Expressed in quiescent cells.

Molecular Function:

• Serine-Type Endopeptidase Inhibitor Activity

Biological Processes:

• Kidney Development
• Multicellular Organism Development
• Aging
• Short-Term Memory
• Cell Proliferation
• Response To Acidic Ph
• Negative Regulation Of Endothelial Cell Migration
• Negative Regulation Of Gene Expression
• Positive Regulation Of Neuron Projection Development
• Negative Regulation Of Angiogenesis
• Ovulation Cycle
• Response To Arsenic-Containing Substance
• Negative Regulation Of Inflammatory Response
• Positive Regulation Of Neurogenesis
• Retina Development In Camera-Type Eye
• Negative Regulation Of Epithelial Cell Proliferation Involved In Prostate Gland Development
• Cellular Response To Cobalt Ion
• Cellular Response To Retinoic Acid
• Cellular Response To Glucose Stimulus
• Cellular Response To Dexamethasone Stimulus
• Negative Regulation Of Neuron Death