Collagen type XIII alpha 1 chain (COL13A1)

Collagen type XIII alpha 1 chain is a transmembranous, nonfibrillar collagen encoded by the COL13A1 gene in humans. Unlike most collagens, which are secreted into the extracellular matrix, collagen XIII embeds in the plasma membrane due to its transmembrane domain. Its function involves cell adhesion—both to the matrix and between cells—playing key roles in development, synaptic organization at neuromuscular junctions, and tissue integrity. It binds heparin, fibronectin, integrins (notably alpha 1), nidogen-2, and perlecan; it can be cleaved to release a soluble extracellular domain. Pathogenic variants cause congenital myasthenic syndromes by impairing neuromuscular junction function. The protein is broadly expressed in connective tissue-producing cells, muscle, placenta, and other tissues; alternative splicing yields multiple isoforms, some with tissue-specific roles.

Other names

Collagen alpha-1(XIII) chainCOL13A1Collagen, type XIII, alpha 1CMS19COLXIIIA1Collagen XIII alpha 1Collagen 13-alpha 1

No direct drugs or inhibitors are known; mechanism of action for potential therapeutic interventions would focus on altering cell-matrix adhesion, receptor clustering, or modulating interactions with integrins and extracellular matrix components