CDAN1 Antibody

1. Mutation in CDAN1 gene is associated with congenital dyserythropoietic anemia. PMID: 29031773
2. The missense substitution in CDAN1, C15ORF41, encodes a novel restriction endonuclease in congenital dyserythropoietic anemia type I. PMID: 23716552
3. The proband with congenital dyserythropoietic anemia Iota in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T. PMID: 24196372
4. The authors propose that Codanin-1 acts as a negative regulator of Asf1 function in chromatin assembly. PMID: 22407294
5. A link between mutant codanin-1 and the aberrant localization of HP1 alpha is supported by the finding that codanin-1 can be coimmunoprecipitated by anti-HP1 alpha antibodies erythroblasts from patients with congenital dyserythropoietic anemia type 1. PMID: 21364188
6. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1 PMID: 12434312
7. codanin-1 may play a role in the development of the skeleton. PMID: 16767397
8. This second case of retinal angioid streaks in CDA I reports a patient homozygous for the Arg1042Trp mutation in codanin-1. PMID: 18081704
9. Congenital dyserythropoietic anemia I (CDA I) is a well-defined entity within the heterogeneous group of the CDAN1 family; here it is associated with mutations in a Chinese family. PMID: 18575862
10. Data suggest that codanin-1 is a cell cycle-regulated protein active in the S phase. PMID: 19336738

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HGNC: 1713

OMIM: 224120

KEGG: hsa:146059

STRING: 9606.ENSP00000348564

UniGene: Hs.599232