The col1a1 gene encodes the alpha-1 chain of type i collagen, a structural fibrillar collagen protein which is a major component of the extracellular matrix. This protein heterotrimerizes with col1a2 c...[+]

The col1a1 gene encodes the alpha-1 chain of type i collagen, a structural fibrillar collagen protein which is a major component of the extracellular matrix. This protein heterotrimerizes with col1a2 chains to form procollagen molecules that are processed and assembled into collagen fibrils, providing tensile strength and structural integrity to developing tissues including skin, muscle, notochord, fin, and craniofacial cartilage. [-]

             osteogenesis imperfecta type 3
             osteogenesis imperfecta type 4
             osteogenesis imperfecta type 2
             osteoporosis
             Ehlers-Danlos syndrome classic type 1
             Caffey disease
             Ehlers-Danlos syndrome arthrochalasia type 1

          EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1; EDSARTH1
          OSTEOGENESIS IMPERFECTA, TYPE III; OI3
          EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
          OSTEOGENESIS IMPERFECTA, TYPE IV; OI4
          CAFFEY DISEASE; CAFYD
          OSTEOGENESIS IMPERFECTA, TYPE I; OI1
          OSTEOGENESIS IMPERFECTA, TYPE II; OI2

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD