Aliases for EFEMP1 Gene
External Ids for EFEMP1 Gene
Previous HGNC Symbols for EFEMP1 Gene
Previous GeneCards Identifiers for EFEMP1 Gene
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]
GeneCards Summary for EFEMP1 Gene
EFEMP1 (EGF Containing Fibulin Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with EFEMP1 include Doyne Honeycomb Retinal Dystrophy and Familial Drusen. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and epidermal growth factor receptor binding. An important paralog of this gene is EFEMP2.
UniProtKB/Swiss-Prot for EFEMP1 Gene
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.