EFEMP1


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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.