CDIN1
Function
Plays a role in erythroid cell differentiation.
Involvement in disease
Anemia, congenital dyserythropoietic, 1B
CDAN1B
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.
Cellular localization
- Nucleus
- Cytoplasm
- Mainly nuclear.
Alternative names
C15orf41, CDIN1, CDAN1-interacting nuclease 1, Protein HH114