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Product Name CDAN1 Chinese Name 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 Mouse, (predicted: Human, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 56/130kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human CDAN1: 1175-1227/1227 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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.
SWISS:
Q8IWY9
Gene ID:
146059
Database links:Entrez Gene: 146059 Human
Entrez Gene: 68968 Mouse
Omim: 607465 Human
SwissProt: Q8IWY9 Human
SwissProt: Q8CC12 Mouse
Unigene: 599232 Human
Unigene: 2289 Mouse
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