ELN
GeneName
ELN
Summary
ELN, also known as elastin or tropoelastin, is a 68kDa protein that is primarily found in the extracellular matrix, particularly within elastic fibres. It plays a vital role in providing elasticity and resilience to tissues such as skin, lungs, and blood vessels. ELN is secreted into the extracellular space where it undergoes a complex assembly process to form elastic fibres, which are crucial for the structural integrity and functionality of various organs. The protein is involved in several biological processes, including organ morphogenesis and blood circulation, and contributes to the regulation of smooth muscle cell proliferation and actin filament dynamics.
Importance
ELN is relevant to: - The maintenance of tissue elasticity and structural integrity, impacting conditions such as emphysema and cutis laxa - Cardiovascular health, as it is essential for the proper functioning of blood vessels and heart valves - Developmental biology, particularly in the context of organ morphogenesis and skeletal muscle tissue development - Pathological conditions associated with abnormal extracellular matrix remodelling, including fibrosis and aneurysm formation
Top Products
For researchers investigating ELN, we recommend two excellent primary antibodies. The first is the well-cited polyclonal antibody, Anti-Elastin antibody (ab21610), which has garnered 107 citations, highlighting its reliability in the field. This antibody is particularly effective for immunohistochemistry (IHC) and immunocytochemistry (ICC), making it a solid choice for various applications. In addition, we offer the recombinant antibody, Anti-Elastin antibody [EPR20603] (ab213720), which is validated for use in IHC and western blotting (WB). With 9 citations, this recombinant product provides the batch-to-batch consistency that many researchers seek. Together, these antibodies provide a comprehensive toolkit for studying ELN effectively. The Anti-Elastin antibody [ELN/1981] ELISA Kit (ab237989) is a reliable option for researchers looking to measure elastin levels in their samples.
Abcam Product Citation Summary
The data indicates that ELN antibodies from Abcam have been extensively used in various applications, particularly in Western blotting and immunohistochemistry, across different species including humans, mice, and sheep. The studies primarily focus on lung tissue and the effects of adiponectin on elastin expression, highlighting the relevance of ELN in respiratory health and cardiovascular studies.
Abcam Product Citation Table
Function
Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity).
Involvement in disease
Cutis laxa, autosomal dominant, 1
ADCL1
A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.
None
The disease is caused by variants affecting the gene represented in this entry.
Supravalvular aortic stenosis
SVAS
Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
ELN is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of ELN may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease (PubMed:8812460).
Post-translational modifications
Elastin is formed through the cross-linking of its soluble precursor tropoelastin. Cross-linking is initiated through the action of lysyl oxidase on exposed lysines to form allysine. Subsequent spontaneous condensation reactions with other allysine or unmodified lysine residues result in various bi-, tri-, and tetrafunctional cross-links. The most abundant cross-links in mature elastin fibers are lysinonorleucine, allysine aldol, desmosine, and isodesmosine.
Hydroxylation on proline residues within the sequence motif, GXPG, is most likely 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.
Sequence Similarities
Belongs to the elastin family.
Tissue Specificity
Expressed within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus (at protein level). Also expressed in the large arteries, lung and skin.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
- Extracellular matrix of elastic fibers.
Alternative names
Elastin, Tropoelastin, ELN