Antibody (Suitable for clinical applications)
Specification | Recommendation |
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Recommended Dilution (Conc) | 1:50-1:100 |
Pretreatment | HistoZyme |
Incubation Parameters | 30 min at Room Temperature |
Prior to use, inspect vial for the presence of any precipitate or other unusual physical properties. These can indicate that the antibody has degraded and is no longer suitable for patient samples. Please run positive and negative controls simultaneously with all patient samples to account and control for errors in laboratory procedure. Use of methods or materials not recommended by enQuire Bio including change to dilution range and detection system should be routinely validated by the user.
Elastin Information for Pathologists
Summary:
Elastin is found in connective tissue and is responsible for elasticity of soft tissue. It is heavily modified post-synthesis prior to being incorporated into elastic fibers in the extracellular space. Accumulation of elastin is common in diseases such as athersclerosis where increased staining is observed in blood vessels.
Elastin General Information | |
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Alternate Names | |
Molecular Weight | |
68.4 kDa | |
Chromosomal Location | |
q11.23 [chr: 7] [chr_start: 74027789] [chr_end: 74069907] [strand: 1] | |
Curated Database and Bioinformatic Data | |
Gene Symbol | ELN |
Entrez Gene ID | 2006 |
RefSeq Protein Accession(s) | NP_001075224; NP_001265845; NP_001265868; NP_001075222; NP_001265844; NP_001075223; NP_000492; NP_001075221 |
RefSeq mRNA Accession(s) | XM_011515873; NM_001278914; NM_001278915; NM_001278916; NM_001278918; XM_005250187; XM_011515869; XM_011515874; XM_011515876; NM_001081755; NM_001278912; XM_011515871; NM_000501; NM_001278913; NM_001278939; XM_011515875; NM_001081752; XM_005250188; XM_011515868; XM_011515870; XM_011515872; XM_017011813; XM_017011814; NM_001081753; NM_001081754; XM_011515877; NM_001278917 |
RefSeq Genomic Accession(s) | NC_000007; NG_009261 |
UniProt ID(s) | P15502 |
PharmGKB ID(s) | PA27757 |
KEGG Gene ID(s) | hsa:2006 |
Associated Diseases (KEGG IDs) | Cutis laxa, autosomal dominant, 1 (ADCL1) [MIM:123700]: 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. {ECO:0000269|PubMed:9873040}. The disease is caused by mutations affecting the gene represented in this entry.; Supravalvular aortic stenosis (SVAS) [MIM:185500]: Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. {ECO:0000269|PubMed:10942104}. The disease is caused by mutations affecting the gene represented in this entry.; 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 (PubMed:8812460). {ECO:0000269|PubMed:8812460}. |
General Description of Elastin . | |
This antibody recognizes insoluble elastin, alpha-elastin, soluble non-cross linked precursor of elastin (tropoelastin). Elastin is an important polymeric protein of connective tissue that imparts elasticity to vertebrate elastic tissues. |
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