EFEMP1

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]

EGF Containing Fibulin Extracellular Matrix Protein 1

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.

Camera-type eye development Source: UniProtKB
Embryonic eye morphogenesis Source: UniProtKB
Epidermal growth factor receptor signaling pathway Source: UniProtKB
Negative regulation of chondrocyte differentiation Source: UniProtKB
Peptidyl-tyrosine phosphorylation Source: UniProtKB
Post-embryonic eye morphogenesis Source: UniProtKB
Regulation of transcription, DNA-templated Source: UniProtKB
Visual perception Source: ProtInc

Extracellular space; Extracellular matrix. Localizes to the lamina propria underneath the olfactory epithelium.

Doyne honeycomb retinal dystrophy (DHRD):
Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.