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FANCONI ANEMIA, COMPLEMENTATION GROUP D2
(OMIM ID: +227646 )

Known also as: None


FA complementation group D is heterogeneous, consisting of 2 distinct genes, FANCD1 (605724) and FANCD2. They reported positional cloning of the FANCD2 gene, which encodes a 1,451-amino acid nuclear protein, has 2 protein isoforms, and maps to 3p. Similar to other FA proteins, the FANCD2 protein has no known functional domains. However, unlike other FA genes, FANCD2 is highly conserved in A. thaliana, C. elegans, and Drosophila.


DNA repair proteins related with FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (+227646 ) disease:
Last modification of this entry: Oct. 11, 2010.

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