Anti-ELN Antibody (CAB12433)
- SKU:
- CAB12433
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
| 抗体名: | Anti-ELN Antibody |
| 抗体コード: | CAB12433 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | IHC |
| 反応性: | Human |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant protein of human ELN |
| 申し込み: | IHC |
| 推奨希釈: | IHC 1:50 - 1:200 |
| 反応性: | Human |
| ポジティブサンプル: |
| 免疫原: | Recombinant protein of human ELN |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | Email for sequence |
| 遺伝子ID: | 2006 |
| Uniprot: | P15502 |
| セルラーロケーション: | Secreted, extracellular matrix, extracellular space |
| 計算された分子量: | 48kDa/56-69kDa |
| 観察された分子量: |
| 同義語: | ELN, SVAS, WBS, WS, ADCL1, elastin |
| バックグラウンド: | 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 |
 | Immunohistochemistry of paraffin-embedded human liver cancer using ELN antibody (CAB12433) at dilution of 1:100 (40x lens). |
 | Immunohistochemistry of paraffin-embedded human breast using ELN antibody (CAB12433) at dilution of 1:100 (40x lens). |
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