The col6a1 gene encodes an alpha chain of type VI collagen, a component of extracellular matrix microfibrils. In embryos, its expression is prominent in the developing notochord, somites, cranial carti...[+]

The col6a1 gene encodes an alpha chain of type VI collagen, a component of extracellular matrix microfibrils. In embryos, its expression is prominent in the developing notochord, somites, cranial cartilage, and otic vesicles. The protein localizes to the extracellular space and functions in forming a structural framework that provides mechanical stability to tissues and supports cell adhesion. [-]

             Bethlem myopathy
             ossification of the posterior longitudinal ligament of spine

          OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
          ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A; UCMD1A

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