COL3A1

Description 

Collagen, type III, alpha-1

COL3A1 encodes for fibrillar-forming collagen, type III.  This is made up of three alpha-1 chains and is a key component of extracellular matrix in many internal organs and skin.  Mutations in this gene are associated with the vascular type of Ehlers-Danlos syndrome (EDS Type IV), and with aortic and arterial aneurysms.  Single point mutations, exon deletions and exon-skipping splice site mutations have been reported.  No genotype/phenotype correlations have been reported to date with these various mutation types.

 

 

Aliases 
EDS4A
Chromosomal Locations 
2q32.2
Tests 
Inheritance 
AD