CECR1,猫眼综合征染色体候选基因1抗体

产品编号HZ-9005R
英文名称CECR1
中文名称猫眼综合征染色体候选基因1抗体
别 名ADGF; Cat eye syndrome chromosome region candidate 1; Cat eye syndrome critical region protein 1; Cat eye syndrome critical region protein 1 precursor; CECR 1; IDGFL; CECR1_HUMAN.
说 明 书0.1ml 0.2ml
研究领域细胞生物 免疫学 表观遗传学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Pig,
CECR1,猫眼综合征染色体候选基因1抗体产品应用ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量56kDa
细胞定位分泌型蛋白
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human CECR1/ADGF
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
CECR1,猫眼综合征染色体候选基因1抗体PubMedPubMed
产品介绍background:
CECR1 is a member of the adenosine and AMP deaminases family. It may act as a growth factor and have adenosine deaminase activity. It is a candidate gene for cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.
Adenosine deaminase is an enzyme that is present in most tissues and exists predominantly as a monomer, although in some tissues it is associated with adenosine deaminase-binding protein. Adenosine deaminase degrades extracellular adenosine, which is toxic for lymphocytes. A novel family of growth factors that share sequence similarity to adenosine deaminase has been identified. The cat eye syndrome critical region protein (CECR) family includes CECR1, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8 and CECR9. The genes encoding CECR proteins are candidates for Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. CES is characterized by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. CECR family members are widely expressed. Specifically, CECR1 has the highest expression in adult heart, lung, lymphoblasts and placenta. CECR2 is also involved in neurulation and chromatin remodeling. Mutations in the CECR2 gene result in neural tube defects.

Function:
Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.

CECR1,猫眼综合征染色体候选基因1抗体Subunit:
Homodimer. Interacts with adenosine receptors. Binds heparin.

Subcellular Location:
Secreted

Tissue Specificity:
Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord.

Similarity:
Belongs to the adenosine and AMP deaminases family. ADGF subfamily.

Database links:
Entrez Gene: 51816 Human
Omim: 607575 Human
SwissProt: Q9NZK5 Human
Unigene: 170310 Human

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.