Collagen type XXVII alpha 1 chain (COL27A1)

Collagen type XXVII alpha 1 chain (COL27A1) is a member of the fibrillar collagen family and functions as a structural protein in the extracellular matrix of cartilage and developing bone[1][2][3][4]. It plays a crucial role during chondrogenesis and endochondral ossification, particularly in the calcification of cartilage and the transition of cartilage to bone[1][2][4]. The protein, produced as a preproprotein, includes a signal peptide, N-terminal and C-terminal propeptides, and a major triple-helical domain characteristic of fibrillar collagens[4]. Type XXVII collagen contributes to the proper organization of chondrocytes and extracellular matrix assembly, forming part of the structural framework into which bone later forms during skeletogenesis[1][2]. Mutations or disruptions in COL27A1 function can cause disorganization in the growth plate and are most notably associated with Steel syndrome, a congenital skeletal disorder[2][4]. There is currently no evidence that COL27A1 serves as a direct therapeutic target, nor are there known pharmacological modulators or biomarker applications in clinical use.

Other names

Collagen alpha-1(XXVII) chainKIAA1870MGC11337FLJ11895STLScollagen type XXVII alpha 1COL27A1