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生物来源
human skin
质量水平
形式
powder
技术
ligand binding assay: suitable
UniProt登记号
储存温度
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
基因信息
human ... ELN(2006)
一般描述
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.
应用
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.
生化/生理作用
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.
制备说明
Prepared under mild extraction conditions to minimize peptide bond cleavage as described by Starcher, et al.
分析说明
Final purity determined by amino acid analysis and the percent insoluble residue remaining after digestion with porcine elastase.
WGK
WGK 3
闪点(°F)
Not applicable
闪点(°C)
Not applicable
个人防护装备
Eyeshields, Gloves, type N95 (US)
法规信息
常规特殊物品
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)
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)
Purification and comparison of elastins from different animal species.
B C Starcher et al.
Analytical biochemistry, 74(2), 441-447 (1976-08-01)
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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