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CDNA1 encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Zusätzlich bieten wir Ihnen Codanin 1 Kits (4) und Codanin 1 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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Mutation in CDAN1 gene is associated with congenital dyserythropoietic anemia.
The missense substitution in CDAN1, C15ORF41, encodes a novel restriction endonuclease in congenital dyserythropoietic anemia type I.
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.
The authors propose that Codanin-1 acts as a negative regulator of Asf1 function in chromatin assembly.
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.
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
codanin-1 may play a role in the development of the skeleton.
This second case of retinal angioid streaks in CDA I reports a patient homozygous for the Arg1042Trp mutation in codanin-1.
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.
Data suggest that codanin-1 is a cell cycle-regulated protein active in the S phase.
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.
, congenital dyserythropoietic anemia, type I
, discs lost homolog
, congenital dyserythropoietic anemia type I