EFEMP1 Antibody – Mouse Monoclonal

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]

EFEMP1: Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth. Defects in EFEMP1 are a cause of Doyne honeycomb retinal dystrophy (DHRD); also known as malattia leventinese (MLVT) (ML). DHRD is an autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. Belongs to the fibulin family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 2p16

Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; extracellular region

Molecular Function: protein binding; epidermal growth factor receptor activity; growth factor activity; calcium ion binding; epidermal growth factor receptor binding

Biological Process: epidermal growth factor receptor signaling pathway; extracellular matrix organization and biogenesis; peptidyl-tyrosine phosphorylation; regulation of transcription, DNA-dependent; visual perception; negative regulation of chondrocyte differentiation

Disease: Doyne Honeycomb Retinal Dystrophy