COL198

COL198, also known as collagen type XIX alpha 1 chain, is a protein that in humans is encoded by the COL19A1 gene. This gene is located on chromosome 19q13.2. COL198 is a member of the collagen family, which are proteins that play crucial roles in the structure and function of various tissues in the body.

The COL19A1 gene produces the alpha 1 chain of type XIX collagen, which is a heterotrimeric collagen. The other two chains in this trimer are alpha 2 and alpha 3 chains, encoded by COL19A2 and COL19A3 genes, respectively. Type XIX collagen is primarily found in the extracellular matrix of the skin, where it contributes to the structural integrity and elasticity of the dermis.

Mutations in the COL19A1 gene have been associated with a rare genetic disorder known as Ehlers-Danlos syndrome, type VIIC. This syndrome is characterized by skin hyperextensibility, joint hypermobility, and a tendency towards arterial aneurysms. The specific role of COL198 in these conditions is not fully understood, but it is believed to be involved in the organization and stability of the extracellular matrix.

Research on COL198 and its associated disorders is ongoing, with a focus on understanding the molecular mechanisms underlying the pathogenesis of Ehlers-Danlos syndrome, type VIIC. Advances in this area may lead to improved diagnostic tools and potential therapeutic interventions for affected individuals.