antibody

ELN Polyclonal Antibody

MBS2516936

0.02 mL

110 USD

polyclonal

rabbit

nonconjugated

western blot, ELISA, enzyme immunoassay

Antibody

ELN Polyclonal Antibody

[ELN]

[WS, WBS, SVAS]

[ELN protein; Elastin; elastin; tropoelastin; elastin; Tropoelastin]

[ELN]

[ELN; ELN; WS; WBS; SVAS]

ELN_HUMAN

Polyclonal

IgG

Rabbit

Human

658

Affinity purification

Store at -20°C. Avoid freeze / thaw cycles.

ELISA (EIA), Western Blot (WB)

WB: 1:500-1:2000

Western Blot (WB)

Immunogen: Recombinant protein of human ELN. Calculated MW: 68kDa

Buffer: PBS with 0.05% sodium azide, 50% glycerol, pH7.3

Cancer

This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene.

41388841

BC065566

P15502

Elastic Fibre Formation Pathway (730310); Extracellular Matrix Organization Pathway (576262); Protein Digestion And Absorption Pathway (172847); Protein Digestion And Absorption Pathway (171868)

This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

elastin: 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. Defects in ELN are the cause of cutis laxa, autosomal dominant, type 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. Defects in ELN are the cause of supravalvular aortic stenosis (SVAS). SVAS is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. 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. Belongs to the elastin family. 13 isoforms of the human protein are produced by alternative splicing. Protein type: Secreted, signal peptide; Extracellular matrix; Secreted. Chromosomal Location of Human Ortholog: 7q11.23. Cellular Component: proteinaceous extracellular matrix; extracellular region. Molecular Function: protein binding; extracellular matrix structural constituent. Biological Process: extracellular matrix disassembly; cell proliferation; extracellular matrix organization and biogenesis; organ morphogenesis; blood circulation; respiratory gaseous exchange. Disease: Cutis Laxa, Autosomal Dominant 1; Williams-beuren Syndrome; Supravalvular Aortic Stenosis

0.02 mL

110 USD

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