EGF-containing fibulin-like extracellular matrix protein 2; fibulin-4; FIBL-4; UPH1 protein (EFEMP2, FBLN4, UNQ200/PRO226)

Structure

• belongs to the fibulin family
• contains 6 EGF-like domains

Compartment

secreted

Pathology

• defects in EFEMP2 are a cause of autosomal recessive cutis laxa type 1

More general terms

• secreted protein

Database

• OMIM: https://mirror.omim.org/entry/219100
• OMIM: https://mirror.omim.org/entry/604633
• UniProt: http://www.uniprot.org/uniprot/O95967.html