COL25A1

Description

The COL25A1 (collagen type XXV alpha 1 chain) is a protein-coding gene located on chromosome 4.

COL25A1 encodes a brain-specific, membrane-bound collagen protein. It is proteolytically processed to release CLAC, a soluble form that contains the extracellular collagen domains. CLAC is associated with senile plaques in the brains of individuals with Alzheimer's disease. COL25A1 interacts with the amyloid precursor protein.

COL25A1 inhibits the formation of amyloid-beta fibrils during the elongation phase. It can also organize amyloid fibrils into aggregates that are resistant to breakdown by proteases. COL25A1 binds to heparin and forms dimers and trimers. It binds to the fibrillized forms of amyloid-beta protein 40 (beta-APP40) and amyloid-beta protein 42 (beta-APP42), with a stronger affinity for beta-APP42.

COL25A1 is also known as AMY, CFEOM5, CLAC, CLAC-P, CLACP.

Associated Diseases

• Fibrosis of extraocular muscles, congenital, 5
• Neurogenic arthrogryposis multiplex congenita
• Congenital fibrosis of extraocular muscles