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 ?
observed decreased fibulin-4 expression in patients with anetoderma or MDE, whereas decreased fibulin-5 expression was only observed in patients with MDE [21].
Yanagisawa, "Fibulin-4 and fibulin-5 in elastogenesis and beyond: insights from mouse and human studies," Matrix Biology, vol.
showed increased MMP activity in fibulin-4 mice, well before the aneurysm had actually formed [115].
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.