catalog number :
MBS033425
products type :
ELISA Kit
products full name :
Human Elastin ELISA Kit
products short name :
Elastin
other names :
elastin isoform m; Elastin; elastin; tropoelastin; elastin; Tropoelastin
other gene names :
ELN; ELN; WS; WBS; SVAS
uniprot entry name :
ELN_HUMAN
specificity :
No significant cross-reactivity or interference between this analyte and analogues is observed.
storage stability :
Store all reagents at 2-8 degree C
other info1 :
Samples: Undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances. Assay Type: Sandwich. Detection Range: 25 ng/ml - 800 ng/ml. Sensitivity: 5.0ng/ml.
other info2 :
Intra-assay Precision: Intra-assay CV (%) is less than 15%. Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].
products description :
Background/Introduction: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of ELN (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.
ncbi acc num :
NP_001265868.1
ncbi gb acc num :
NM_001278939.1
ncbi mol weight :
68,469 Da
ncbi pathways :
Elastic Fibre Formation Pathway (730310); Extracellular Matrix Organization Pathway (576262); Protein Digestion And Absorption Pathway (172847); Protein Digestion And Absorption Pathway (171868)
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 summary :
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; Secreted, signal peptide; Extracellular matrix. 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; organ morphogenesis; extracellular matrix organization and biogenesis; blood circulation; respiratory gaseous exchange. Disease: Cutis Laxa, Autosomal Dominant 1; Williams-beuren Syndrome; Supravalvular Aortic Stenosis