EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) (EFEMP1)

EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1), also known as Fibulin-3, is a secreted glycoprotein that serves as a structural and signaling component of the extracellular matrix (ECM) (UniProt Q12805). It plays a pivotal role in regulating cell-matrix interactions, influencing processes such as cell adhesion, migration, and proliferation (NCBI Gene 2202). In oncology, EFEMP1 is frequently overexpressed and acts as a pro-tumorigenic factor in cancers like malignant mesothelioma and glioblastoma, where it facilitates tumor invasion and resistance to apoptosis (PubMed 21810915, 22566540). Conversely, a specific point mutation (Arg345Trp) in the EFEMP1 gene is the primary cause of Doyne honeycomb retinal dystrophy, a condition characterized by the accumulation of extracellular deposits under the retinal pigment epithelium (PubMed 10441333). Because of its role in promoting tumor progression, EFEMP1 mRNA is being investigated as a therapeutic target for knockdown using RNA interference (siRNA) or antisense oligonucleotides (ASOs) to reduce protein levels in malignant tissues (PubMed 25646672). These RNA-based approaches aim to reduce the pathological levels of the protein by preventing its translation or inducing mRNA degradation. Additionally, EFEMP1 has been identified as a highly sensitive and specific biomarker for malignant mesothelioma, aiding in early diagnosis and monitoring (PubMed 21810915). Therapeutic challenges include the effective delivery of oligonucleotides to tumor sites and the potential for off-target effects on normal connective tissues where EFEMP1 maintains structural integrity.

Other names

Fibulin-3FBLN3S1-5Doyne honeycomb retinal dystrophy proteinMLVT

RNA interference-mediated degradation of mRNA and antisense-mediated inhibition of translation.