A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

Elastic fiber assembly

  • Cutis laxa, autosomal recessive, type ib
  • Autosomal recessive cutis laxa type i
  • Efemp2-related cutis laxa
  • Cutis laxa, autosomal recessive, type ia
  • Cutis laxa

Ismaïl Jarmouni. Structure of EGF-containing fibulin-like extracellular matrix protein 2

Gene Location