EFEMP2
EFEMP2 (EGF-like fibulin extracellular matrix protein 2, also known as FBLN4 or UPH1) is a secreted fibulin-family protein of the extracellular matrix. It is required for elastic fibre formation and connective tissue development. Browse Assay Genie's current range of EFEMP2 research reagents below, or read on for the biology behind the target.
EFEMP2 plays a crucial role in elastic fibre formation in tissue. In the aorta it contributes to the ultrastructural connections between elastic laminae and smooth muscle cells, and so participates in the terminal differentiation and maturation of smooth muscle cells (SMCs) and in maintaining the mechanical properties and wall integrity of the vessel. It also promotes ELN (elastin) coacervation and the deposition of ELN coacervates onto microfibrils.
The protein also influences collagen and elastin cross-linking. It is involved in the control of collagen fibril assembly through proteolytic activation of LOX, and it regulates ELN cross-linking through its interaction with LOX. In addition, EFEMP2 adheres to cells through heparin binding in a calcium-dependent manner and regulates vascular smooth muscle cell proliferation through angiotensin signalling.
The EFEMP2 gene encodes a protein containing four EGF2 domains and six calcium-binding EGF2 domains. Many extracellular matrix proteins carry variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, complement activation and cell fate determination during development. The protein is secreted into the extracellular space, where it is found in the extracellular matrix and the basement membrane. It belongs to the fibulin family, and the HGNC groups it with the Fibulins. Defects in the gene cause an autosomal recessive cutis laxa syndrome, and alternatively spliced transcript variants have been identified. The mouse ortholog is Efemp2.
EFEMP2 is necessary for elastic fibre formation and connective tissue development, making it a key protein for studying matrix assembly.
It links elastic laminae to smooth muscle cells in the aorta and helps maintain the mechanical properties and wall integrity of the vessel.
EFEMP2 activates LOX proteolytically and regulates ELN cross-linking, so it is relevant to studies of collagen fibril assembly.
Defects in the EFEMP2 gene cause an autosomal recessive cutis laxa syndrome, linking the protein to inherited connective tissue disorders.
EFEMP2 is a secreted extracellular matrix protein that supports elastic fibre formation. It links elastic laminae to smooth muscle cells in the aorta, promotes ELN coacervation, activates LOX to drive collagen and elastin cross-linking, and regulates vascular smooth muscle cell proliferation through angiotensin signalling.
EFEMP2 is the HGNC symbol for EGF-like fibulin extracellular matrix protein 2. It is also known as FBLN4 (fibulin-4) and UPH1, and UniProt names it EGF-containing fibulin-like extracellular matrix protein 2. NCBI notes that alternatively spliced transcript variants have been identified for the gene.
Defects in the EFEMP2 gene cause an autosomal recessive cutis laxa syndrome, reflecting its role in elastic fibre formation and connective tissue development. A mouse ortholog, Efemp2, exists; check the datasheet of any product for its validated reactivity.
Other fibulin family members and extracellular matrix proteins involved in elastic fibre and connective tissue biology.
Gene and protein annotations from HGNC, NCBI Gene and UniProt O95967; product specifications from Assay Genie datasheets.