EFEMP1 spans approximately 18 kb of genomic DNA and consists of 12 exons. Two transcripts with distinct 5' UTR have been described; the resulting proteins have distinct N-terminal amino acid sequences. Translation initiation from internal methionine residues was observed with in vitro translation. A signal peptide sequence is predicted for translation initiation sites 1, 2, and 4. The protein isoforms contain 5 or 6 calcium-binding EGF2 domains and 5 or 6 EGF2 domains. Mutations in this gene cause the retinal disease Malattia Leventinese.
