Type IV collagens (COL4s)

Pathology

 COL4As : germline mutations in Alport syndromes

• COL4A1 : Target for auto-antibodies in Goodpasture disease
• COL4A3 : mutations in autosomal recessive Alport syndrome
• COL4A3 : mutations in benign familial hematuria (MIM.141200)
• COL4A4 : mutations in autosomal recessive Alport syndrome
• COL4A5 : mutations in X-linked Alport syndrome
• COL4A6 : deletions in diffuse leiomyomatosis (MIM.308940) with X-linked Alport syndrome