Cell Biology Antibodies 3

Anti-ELN Antibody (CAB12433)

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SKU:
CAB12433
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-ELN Antibody
Antibody SKU:CAB12433
Antibody Size:20uL, 50uL, 100uL
Application:IHC
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant protein of human ELN
Application:IHC
Recommended Dilution:IHC 1:50 - 1:200
Reactivity:Human
Positive Samples:
Immunogen:Recombinant protein of human ELN
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:2006
Uniprot:P15502
Cellular Location:Secreted, extracellular matrix, extracellular space
Calculated MW:48kDa/56-69kDa
Observed MW:
Synonyms:ELN, SVAS, WBS, WS, ADCL1, elastin
Background: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.
UniProt Protein Function: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.
UniProt Protein Details:

Protein type:Extracellular matrix; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 7q11.23

Cellular Component: extracellular region

Molecular Function:protein binding

Biological Process: blood circulation; cell proliferation; extracellular matrix disassembly; extracellular matrix organization and biogenesis; organ morphogenesis; respiratory gaseous exchange

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

NCBI Summary: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 Code:P15502
NCBI GenInfo Identifier:306526276
NCBI Gene ID:2006
NCBI Accession:P15502.3
UniProt Secondary Accession:P15502,O15336, O15337, Q14233, Q14234, Q14235, Q14238 Q6P0L4, Q6ZWJ6, Q75MU5, Q7Z316, B3KTS6,
UniProt Related Accession:P15502
Molecular Weight:68kDa
NCBI Full Name:Elastin
NCBI Synonym Full Names:elastin
NCBI Official Symbol:ELN  
NCBI Official Synonym Symbols:WS; WBS; SVAS  
NCBI Protein Information:elastin
UniProt Protein Name:Elastin
UniProt Synonym Protein Names:Tropoelastin
Protein Family:Elastin
UniProt Gene Name:ELN  
Anti-ELN Antibody (CAB12433)Immunohistochemistry of paraffin-embedded human liver cancer using ELN antibody (CAB12433) at dilution of 1:100 (40x lens).
Anti-ELN Antibody (CAB12433)Immunohistochemistry of paraffin-embedded human breast using ELN antibody (CAB12433) at dilution of 1:100 (40x lens).
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