COL4A1

The COL4A1 gene encodes collagen type IV alpha 1 chain, a core component of basement membranes (BMs). It forms heterotrimeric structures with COL4A2, assembling into a mesh-like network that maintains BM integrity and regulates cell adhesion, migration, and differentiation via interactions with integrins and matrix proteins.
Mutations in COL4A1 are linked to cerebral small vessel disease (causing strokes or hemorrhage), retinal vascular anomalies, and renal dysfunction. Currently, no targeted therapies exist; management focuses on symptom control like blood pressure regulation. Preclinical research explores strategies to modulate collagen assembly or repair BM defects, though clinical translation is still in early stages.