EFEMP1

Description

The EFEMP1 (EGF containing fibulin extracellular matrix protein 1) is a protein-coding gene located on chromosome 2.

EFEMP1 is a member of the fibulin family of extracellular matrix glycoproteins, containing tandemly repeated epidermal growth factor-like repeats followed by a fibulin-type domain. It is upregulated in malignant gliomas and may contribute to their aggressive nature. Mutations in EFEMP1 are linked to Doyne honeycomb retinal dystrophy and an increased risk of hernias. EFEMP1 is encoded by a gene spanning approximately 18 kb of genomic DNA and consists of 12 exons. Alternative splicing patterns in the 5' UTR produce three transcript variants encoding the same extracellular matrix protein.

EFEMP1 is also known as ARCL1D, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5.

Associated Diseases

• Familial drusen
• Cutis laxa, autosomal recessive, type ID
• Doyne honeycomb retinal dystrophy
• Juvenile glaucoma