EFEMP2

(redirected from Fibulin-4)

EFEMP2

A gene on chromosome 11q13.1 that encodes an extracellular matrix protein with multiple epidermal growth factor (EGF) domains, which is required for elastic fibre formation and connective tissue development.

Molecular pathology
EFEMP2 mutations cause a form of autosomal recessive cutis laxa syndrome.
References in periodicals archive ?
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly and mild cutis laxa.