CDAN1,先天性红细胞生成异常性贫血蛋白1抗体

产品编号HZ-7994R
英文名称CDAN1
中文名称先天性红细胞生成异常性贫血蛋白1抗体
别 名Alternative namesCDA1; CDAI; CDAN1; CDAN1_HUMAN; Codanin; Codanin-1; Codanin1; PRO1295.
说 明 书0.1ml 0.2ml
研究领域心血管 细胞生物 免疫学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse,
CDAN1,先天性红细胞生成异常性贫血蛋白1抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （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56/130kDa
细胞定位细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human CDAN1
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.
CDAN1,先天性红细胞生成异常性贫血蛋白1抗体PubMedPubMed
产品介绍background:
This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis.

Function:
Might be involved in nuclear membrane integrity.

Subcellular Location:
Membrane; Multi-pass membrane protein.

Tissue Specificity:
Ubiquitously expressed. Isoform 3 is not found in erythroid cells.

CDAN1,先天性红细胞生成异常性贫血蛋白1抗体DISEASE:
Defects in CDAN1 are the cause of congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]. An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.

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