Rabbit anti-Human ELN Polyclonal Antibody | anti-ELN antibody

ELN (Elastin, WS, WBS, SVAS) (Biotin)

Cat. Num. AAA6415784

• Gene Names: ELN; WS; WBS; SVAS
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by affinity chromatography.
• Synonyms: ELN; Polyclonal Antibody; ELN (Elastin; WS; WBS; SVAS) (Biotin); anti-ELN antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human ELN.
• Purity/Purification: Purified by affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.
• Concentration: ~1mg/ml (varies by lot)

• Applicable Applications for anti-ELN antibody: Western Blot (WB)
• Application Notes: WB: 1:500-1:2000; Applications are based on unconjugated antibody.
• Immunogen: Recombinant protein corresponding to human ELN.
• Conjugate: Biotin
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western blot analysis of extracts of various cell lines, using ELN antibody.)

Product Categories/Family for anti-ELN antibody

Antibodies; Elastin

NCBI and Uniprot Product Information

• NCBI GI #: 525313599
• NCBI GeneID: 2006
• NCBI Accession #: NP_001265868.1
• NCBI GenBank Nucleotide #: NM_001278939.1
• UniProt Accession #: P15502; O15336; O15337; Q14233; Q14234; Q14235; Q14238; Q6P0L4; Q6ZWJ6; Q75MU5; Q7Z316; B3KTS6
• Molecular Weight: 68,469 Da
• NCBI Official Full Name: elastin isoform m
• NCBI Official Synonym Full Names: elastin
• NCBI Official Symbol: ELN
• NCBI Official Synonym Symbols: WS; WBS; SVAS
• NCBI Protein Information: elastin; tropoelastin
• UniProt Protein Name: Elastin
• Protein Family: Elastin
• UniProt Gene Name: ELN
• UniProt Entry Name: ELN_HUMAN

NCBI Description

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]

Uniprot Description

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: Extracellular matrix; Secreted, signal peptide; 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: cell proliferation; extracellular matrix disassembly; extracellular matrix organization and biogenesis; organ morphogenesis; blood circulation; respiratory gaseous exchange

Disease: Cutis Laxa, Autosomal Dominant 1; Williams-beuren Syndrome; Supravalvular Aortic Stenosis