Fibulin 3 (FBLN3) Antibody – Rabbit Polyclonal

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; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 14q22

Cellular Component: basement membrane; cytoplasm; extracellular matrix; extracellular space

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

Biological Process: camera-type eye development; embryonic eye morphogenesis; epidermal growth factor receptor signaling pathway; negative regulation of chondrocyte differentiation; peptidyl-tyrosine phosphorylation; positive regulation of cell projection organization; positive regulation of cell proliferation; post-embryonic eye morphogenesis; regulation of transcription, DNA-templated