Collagen type V alpha 1 chain (COL5A1)

Collagen type V alpha 1 chain is a low-abundance fibrillar collagen found ubiquitously in connective tissues, where it forms heterotrimeric molecules that regulate the assembly and diameter of type I collagen fibers[1][2][4]. It plays a key role in organizing the extracellular matrix and maintaining tissue structural integrity. Mutations in the COL5A1 gene can cause the classical type of Ehlers-Danlos syndrome, characterized by fragile, highly extensible skin and joint hypermobility[2]. Collagen type V alpha 1 chain is also implicated in certain cancers, such as glioblastoma and triple-negative breast cancer, where its overexpression contributes to tumor progression and tissue remodeling[3][7]. The protein binds other extracellular matrix components (such as DNA, heparin, and thrombospondin)[6]. No direct therapeutic drugs are established for this target, and its clinical relevance is primarily in the context of genetic disease and cancer biomarker research.

Other names

Collagen alpha-1(V) chainPro-α1(V) chainType V collagen alpha 1 chainCOL5A1