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Protein Page:
CDAN1 (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 15q15.2
Cellular Component: cytoplasm; endomembrane system; nucleus; plasma membrane
Molecular Function: protein binding
Biological Process: chromatin assembly; establishment and/or maintenance of chromatin architecture; negative regulation of DNA replication; protein localization
Disease: Anemia, Congenital Dyserythropoietic, Type Ia
Reference #:  Q8IWY9 (UniProtKB)
Alt. Names/Synonyms: CDA1; CDAI; CDAN1; codanin 1; Codanin-1; congenital dyserythropoietic anemia, type I; discs lost homolog; DLT; PRO1295
Gene Symbols: CDAN1
Molecular weight: 134,120 Da
Basal Isoelectric point: 6.35  Predict pI for various phosphorylation states
Select Structure to View Below

CDAN1

Protein Structure Not Found.


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