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Normal Function
The CDIN1 gene provides instructions for making a protein called the CDAN1-interacting nuclease 1. This protein likely acts as a nuclease. Nucleases cut (cleave) building blocks called nucleotides one at a time from DNA and its chemical cousin RNA. CDAN1-interacting nuclease 1 is thought to play a role in correcting errors (DNA repair) that are made when DNA is copied (DNA replication) in preparation for cell division. This protein is also involved in the growth and development of red blood cells (erythropoiesis).
Health Conditions Related to Genetic Changes
Congenital dyserythropoietic anemia
Variants (also called mutations) in the CDIN1 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type I. This condition is characterized by a shortage of red blood cells that is caused by abnormal red blood cell formation (dyserythropoietic anemia). In people with CDA type I, immature red blood cells cannot develop into functional, mature cells. As a result, the number of mature and functioning red blood cells decreases, which leads to weakness, yellowing of the skin and eyes (jaundice), an enlarged liver and spleen (hepatosplenomegaly), the buildup of too much iron (iron overload), and skeletal problems in people with CDA type I.
Most CDIN1 gene variants change single protein building blocks (amino acids) in the CDAN1-interacting nuclease 1 protein. The CDIN1 gene variants that cause CDA type I likely reduce the function of CDAN1-interacting nuclease 1 rather than completely eliminate it, since the protein appears to be essential for life. It is unclear how CDIN1 gene variants cause the characteristic features of CDA type I. A shortage of functional protein somehow disrupts the normal development of red blood cells. In people with CDA type I, immature red blood cells called erythroblasts are large and may have more than one nucleus. These abnormal erythroblasts cannot develop into functional, mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia and the other features of CDA type I.
More About This Health ConditionOther Names for This Gene
- C15orf41
- HH114
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Iolascon A, Andolfo I, Russo R. Congenital dyserythropoietic anemias. Blood. 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. Citation on PubMed
- Mendez M, Moreno-Carralero MI, Peri VL, Camacho-Galan R, Bosch-Benitez JM, Huerta-Aragones J, Sanchez-Calero-Guilarte J, Moreno-Risco MB, Alonso-Dominguez JM, Moran-Jimenez MJ. Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene. Ann Hematol. 2021 Feb;100(2):353-364. doi: 10.1007/s00277-020-04319-5. Epub 2020 Nov 7. Citation on PubMed
- Russo R, Iolascon A, Andolfo I, Marra R, Rosato BE. Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias. Int J Lab Hematol. 2024 Aug;46(4):595-605. doi: 10.1111/ijlh.14307. Epub 2024 May 15. Citation on PubMed
- Tamary H, Dgany O. Congenital Dyserythropoietic Anemia Type I. 2009 Apr 21 [updated 2021 Jul 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK5313/ Citation on PubMed
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