DISEASES

Disease-gene associations mined from literature

Literature associating EFEMP1 and age related macular degeneration 1

EFEMP1 [ENSP00000378058]

EGF containing fibulin-like 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; Belongs to the fibulin family.

Synonyms:  EFEMP1,  EFEMP1p,  hEFEMP1,  C9J4H7,  C9J4J8 ...

Linkouts:  STRING  Pharos  UniProt