EFEMP1
EFEMP1
A gene on chromosome 2p16 that encodes a member of the fibulin family of extracellular matrix glycoproteins, which contain tandemly repeated epidermal growth factor (EGF)-like repeats followed by a C-terminus fibulin-type domain.Molecular pathology
EFEMP1 is upregulated in malignant gliomas and may play a role in tumour aggression; EFEMP1 mutations cause Doyne honeycomb retinal dystrophy.