ECEL1 Antibody, FITC conjugated

說明書

中文名稱：

ECEL1兔多克隆抗體, FITC偶聯(lián)
貨號：

CSB-PA007373LC01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) ECEL1 Polyclonal antibody
Uniprot No.：

O95672
基因名：

ECEL1
別名：

ECEL1; XCE; UNQ2431/PRO4991; Endothelin-converting enzyme-like 1; Xce protein
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Endothelin-converting enzyme-like 1 protein (425-775AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產(chǎn)品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

功能：

May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.
基因功能參考文獻：
1. Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita. PMID: 25708584
2. Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis) PMID: 25173900
3. Three novel ECEL1 mutations have been identified in consanguineous pedigrees of Saudi Arabian origin presenting with distal arthrogryposis type 5D. PMID: 23829171
4. A novel missense c.1819G>A mutation (G607S) in the ECEL1 gene has been identified in a consanguineous pedigree of Turkish origin presenting with congenital contracture syndromes. PMID: 23808592
5. We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction PMID: 23236030
6. Mutations in ECEL1 cause distal arthrogryposis type 5D. PMID: 23261301
7. Sp1 recruits ATF3, c-Jun, and STAT3 to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene PMID: 18192274
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相關(guān)疾病：

Arthrogryposis, distal, 5D (DA5D)
亞細胞定位：

Membrane; Single-pass type II membrane protein.
蛋白家族：

Peptidase M13 family
組織特異性：

Highly expressed in the CNS, in particular in putamen, spinal cord, medulla and subthalamic nucleus. A strong signal was also detected in uterine subepithelial cells and around renal blood vessels. Detected at lower levels in amygdala, caudate, thalamus,
數(shù)據(jù)庫鏈接：

HGNC: 3147

OMIM: 605896

KEGG: hsa:9427

STRING: 9606.ENSP00000302051

UniGene: Hs.26880

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