disease:Defects in CRTAP are the cause of osteogenesis imperfecta type 2B (OI-2B) [MIM:610854]. OI-2B is an autosomal recessive form of perinatal lethal OI. This form is designated OI-2B to distinguish it from the autosomal dominant form OI-2A.,disease:Defects in CRTAP are the cause of osteogenesis imperfecta type 7 (OI-7) [MIM:610682]. OI is a connective tissue disorder characterized by bone fragility and low bone mass. OI-7 is an autosomal recessive form of OI.,similarity:Belongs to the CRTAP/No55 family.,tissue specificity:Found in articular chondrocytes. Expressed in a variety of tissues.,
Secreted, extracellular space, extracellular matrix .
Found in articular chondrocytes. Expressed in a variety of tissues.
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