EGF-containing fibulin-like extracellular matrix protein 1 (fibulin-3, FIBL-3, fibrillin-like protein, extracellular protein S1-5, EFEMP1, FBLN3, FBNL)
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Structure
- belongs to the fibulin family
- contains 6 EGF-like domains
Compartment
Alternative splicing
named isoforms=4
Pathology
- defects in EFEMP1 are associated with Doyne honeycomb retinal dystrophy
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q12805.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=EFEMP1
- ↑ Mutations of the EFEMP1 gene Retina International's Scientific Newsletter http://www.retina-international.com/sci-news/efempmut.htm