EFEMP2(redirected from FBLN4)
EFEMP2A gene on chromosome 11q13.1 that encodes an extracellular matrix protein with multiple epidermal growth factor (EGF) domains, which is required for elastic fibre formation and connective tissue development.
EFEMP2 mutations cause a form of autosomal recessive cutis laxa syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.