EFEMP1, FBLN3, FBNL, EGF-containing fibulin-like extracellular matrix protein 1, Extracellular protein S1-5, Fibrillin-like protein, Fibulin-3, FIBL-3
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009],alternative products:Experimental confirmation may be lacking for some isoforms,disease:Defects in EFEMP1 are a cause of Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600], also known as malattia leventinese (MLVT OR ML). DHRD is an autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.,online information:Retina Internationals Scientific Newsletter,similarity:Belongs to the fibulin family.,similarity:Contains 6 EGF-like domains.,
