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Product Name Anti-CDAN1/AF594 Chinese Name AF594标记的先天性红细胞生成异常性贫血蛋白1抗体 Alias Alternative namesCDA1; CDAI; CDAN1; CDAN1_HUMAN; Codanin; Codanin-1; Codanin1; PRO1295. Research Area Cardiovascular Cell biology immunology Immunogen Species Rabbit Clonality Polyclonal React Species Applications ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Molecular weight 56/130kDa Form Lyophilized or Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human CDAN1 Lsotype IgG Purification affinity purified by Protein A Storage Buffer 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage 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. Product Detail 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.
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.
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