Collagen type I alpha 1 chain (COL1A1) (COL1A1)

Collagen type I alpha 1 chain (COL1A1) is a critical structural protein that forms the majority of type I collagen, the most abundant extracellular matrix component in dermal and musculoskeletal tissues (UniProt P02452). It provides essential tensile strength and scaffold support for skin, bone, tendons, and ligaments, playing a vital role in tissue development and wound repair (NCBI Gene 1277). Mutations in the COL1A1 gene lead to severe connective tissue disorders, including Osteogenesis Imperfecta and Ehlers-Danlos syndrome, characterized by bone fragility and skin hyperextensibility (StatPearls, NBK1295). In fibrotic diseases, such as systemic sclerosis or keloids, overproduction of COL1A1 leads to pathological tissue hardening and organ dysfunction (PubMed, 28232556). Therapeutic strategies involve modulating COL1A1 levels, using retinoids to stimulate production in aging skin or antifibrotic drugs like pirfenidone to suppress its synthesis in chronic inflammatory conditions (PubMed, 26338213).

Other names

Alpha-1 type I collagenCollagen alpha-1(I) chainOI4EDSCCollagen type I alpha 1

Enzymatic degradation of collagen fibers; Transcriptional regulation of collagen synthesis via TGF-beta pathway modulation; Post-translational modification support; Stimulation of collagen production via retinoic acid receptor activation.