Entity Details

Primary name CDAN1
Entity type gene
Source Source Link

Details

PrimaryID146059
RefseqGeneNG_012491
SymbolCDAN1
Namecodanin 1
Chromosome15
Location15q15.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCDAN1_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006325 chromatin organization
GO:0008104 protein localization
GO:0008156 negative regulation of DNA replication
GO:0012505 endomembrane system
GO:0016021 integral component of membrane
GO:0031497 chromatin assembly

Diseases

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Disease IDSourceNameDescription
224120 OMIMAnemia, congenital dyserythropoietic, 1A (CDAN1A)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. The disease is caused by variants affecting the gene represented in this entry.