EFEMP1

Also known as DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5

EGF-containing fibulin-like extracellular matrix protein 1 is a protein that in humans is encoded by the EFEMP1 gene.

Gene data

EFEMP1

Name: EGF-like fibulin extracellular matrix protein 1
Type: protein-coding
Position: 55,865,962–55,924,271 (−)
Aliases: ARCL1D, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5
Ensembl: ENSG00000115380
RefSeq RNA: NM_001039348.3, NM_001039349.3, NM_001445633.1, NM_001445634.1, NM_001445635.1
RefSeq protein: NP_001034437.1, NP_001034438.1, NP_001432562.1, NP_001432563.1, NP_001432564.1

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].