Gene COL26A1
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Also known as
EMI6, EMID2, EMU2, SH2BOverview
COL26A1 (Collagen, type XXVI, alpha 1) is a gene that codes for a protein called collagen type XXVI alpha 1. Collagen is a structural protein that provides strength and support to various tissues in the body, including skin, bones, tendons, and ligaments. Collagen type XXVI is a relatively recently discovered type of collagen and its function is not yet well understood.
Some studies suggest that COL26A1 may play a role in the development and maintenance of the extracellular matrix, the network of molecules that provides structural support to cells, and that it is involved in the regulation of cell adhesion and migration.
There is not much known about the specific function of COL26A1, but it is thought to have a role in the development and maintenance of various tissues and organs, particularly skin and bone. Studies have also suggested that mutations in the COL26A1 gene are associated with the development of certain skin disorders such as epidermolysis bullosa simplex (EBS), a rare genetic disorder characterized by fragile skin and recurrent blistering.