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E7402

Sigma-Aldrich

Elastin from human skin

insoluble powder

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About This Item

CAS Number:
9007-58-3
EC Number:
232-701-4
MDL number:
MFCD03456696
UNSPSC Code:
12352202
NACRES:
NA.61

biological source

human skin

Quality Level

100

form

powder

technique(s)

ligand binding assay: suitable

UniProt accession no.

P15502

storage temp.

2-8°C

InChI

1S/C27H48N6O6/c1-9-17(6)23(32-24(36)19(13-15(2)3)30-18(7)34)26(38)29-14-21(35)31-22(16(4)5)27(39)33-12-10-11-20(33)25(37)28-8/h15-17,19-20,22-23H,9-14H2,1-8H3,(H,28,37)(H,29,38)(H,30,34)(H,31,35)(H,32,36)/t17-,19-,20-,22-,23-/m0/s1

InChI key

DPUYCSDGMSDKKV-MKBYFEBXSA-N

Gene Information

human ... ELN(2006)

General description

Elastin is an extracellular matrix protein encoded by the gene ELN, which is mapped to human chromosome 7q11.23. Elastin is a major protein component of elastic fibres and is synthesized from the precursor protein called tropoelastin. Elastin is present in all the vertebrates except for the primitive fish. Elastin is majorly composed of glycine, proline and other hydrophobic residues.

Application

Elastin from human skin has been used as a substrate for the enzyme reaction with age-related NADH oxidase (arNOX) using fluorescein-conjugated tyramine.
Elastin is a structural protein which has been used in studies of chronic obstructive pulmonary disease (COPD). It may be used to investigate why there is a lack of repair for these proteins in patients with COPD.

Biochem/physiol Actions

Elastin is essential for resilience of arteries, and other elastic tissues like lungs and skin. Polymorphism in ELN gene causes intracranial aneurysm. Loss of function or haploinsufficiency of ELN gene leads to supravalvular aortic stenosis (SVAS). Frameshift mutations in ELN gene is implicated in congenital cutis laxa resulting in skin laxity and affect pulmonary and cardiovascular system.

Preparation Note

Prepared under mild extraction conditions to minimize peptide bond cleavage as described by Starcher, et al.

Analysis Note

Final purity determined by amino acid analysis and the percent insoluble residue remaining after digestion with porcine elastase.

Storage Class

11 - Combustible Solids

wgk_germany

WGK 3

flash_point_f

Not applicable

flash_point_c

Not applicable

ppe

Eyeshields, Gloves, type N95 (US)

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Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)
Zhang MC, et al.
The Journal of biological chemistry, 274(2), 981-986 (1999)
Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial Aneurysm in Koreans
Jeon JP, et al.
Neurologia Medico-Chirurgica, 58(1), 17-22 (2018)
Elastin: relation of protein and gene structure to disease.
Rosenbloom J
Laboratory Investigation; a Journal of Technical Methods and Pathology, 51(6), 605-623 (1984)
Christiaan Meadows et al.
Archives of dermatological research, 306(7), 645-652 (2014-06-08)
Age-related NADH oxidase (arNOX), a cell surface-located hydroquinone oxidase capable of superoxide generation, appears at age 30 and increases with age thereafter. The ectodomain of arNOX is shed from the cell surface into body fluids including sera and saliva where
Z Urbán et al.
Human genetics, 106(6), 577-588 (2000-08-15)
We have used single-strand conformation and heteroduplex analyses of genomic amplimers to identify point mutations within the elastin gene (ELN) in patients with non-syndromic supravalvular aortic stenosis (SVAS) from a total of eight unrelated families. Six novel point mutations were
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