CDAN1
Function
May act as a negative regulator of ASF1 in chromatin assembly.
Involvement in disease
Anemia, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitously expressed. Isoform 3 is not found in erythroid cells.
Cellular localization
- Cytoplasm
- Nucleus
- Membrane
- Multi-pass membrane protein
- Mainly detected as a cytoplasmic protein.
Alternative names
UNQ664/PRO1295, CDAN1, Codanin-1