NP_612486.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
codanin-1
NCBI Official Synonym Full Names
codanin 1
NCBI Official Synonym Symbols
DLT; CDA1; CDAI; CDAN1A; PRO1295 [Similar Products]
NCBI Protein Information
codanin-1; discs lost homolog; congenital dyserythropoietic anemia, type I
UniProt Protein Name
Codanin-1
UniProt Synonym Gene Names
UniProt Entry Name
CDAN1_HUMAN
NCBI Summary for CDAN1
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. [provided by RefSeq, Jul 2009]
UniProt Comments for CDAN1
CDAN1: Might be involved in nuclear membrane integrity. Defects in CDAN1 are the cause of congenital dyserythropoietic anemia type 1 (CDA1). 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. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 15q15.2
Cellular Component: cytoplasm; plasma membrane; integral to membrane; endomembrane system; nucleus
Molecular Function: protein binding
Biological Process: protein localization; establishment and/or maintenance of chromatin architecture; negative regulation of DNA replication; chromatin assembly
Disease: Anemia, Congenital Dyserythropoietic, Type Ia
Research Articles on CDAN1
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Diseases associated with CDAN1 elisa kit
Organs/Tissues associated with CDAN1 elisa kit
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