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Collagen type I alpha 1 chain

Molecular classification: Extracellular matrix structural constituent

Overview

Collagen type I alpha 1 chain, encoded by the COL1A1 gene, is the major component of type I collagen, the most abundant collagen in the body. It provides tensile strength and structural support to bone, skin, tendon, cartilage, and sclera. Mutations in COL1A1 are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, and osteoporosis.

Other names: alpha-1 type I collagenCOL1A1

Biological functions

Tensile strengthSkeletal system developmentSkin morphogenesisTooth mineralizationExtracellular matrix organization

Disease associations

Osteogenesis imperfectaEhlers-Danlos syndromeOsteoporosis

Safety considerations

Mutations can lead to brittle bonesMutations can lead to weakened connective tissuePolymorphisms can increase risk for osteoporosis

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