EFEMP1, Official Symbol EFEMP1provided by HGNC Official Full Name EGF containing fibulin extracellular matrix protein 1provided by HGNC Primary source HGNC:HGNC:3218 See related Ensembl:ENSG00000115380 MIM:601548; AllianceGenome:HGNC:3218 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3 Summary 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] Expression Broad expression in placenta (RPKM 172.1), lung (RPKM 80.6) and 21 other tissues See more Orthologs mouse all