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CDIN1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CDIN1 gene

The CDIN1 gene provides instructions for making a protein essential for DNA repair and the development of red blood cells.

Normal Function

The CDIN1 gene provides instructions for making a protein called the CDAN1-interacting nuclease 1. This protein likely acts as a nuclease, which cuts (cleaves) 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 caused by abnormal red blood cell formation. 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)
  • Skeletal problems

Most CDIN1 gene variants change single protein building blocks (amino acids) in the CDAN1-interacting nuclease 1 protein. These variants likely reduce the function of the protein rather than completely eliminate it, as the protein appears to be essential for life. 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, leading to the characteristic signs and symptoms of anemia.

Other Names for This Gene

  • C15orf41
  • HH114

Frequently Asked Questions

In CDA type I, the bone marrow produces red blood cells that are defective and are destroyed before they can mature. This ineffective erythropoiesis triggers the body to produce more erythropoietin, which stimulates the intestines to absorb more iron. Because the red blood cells are constantly being broken down and the body cannot utilize the iron effectively for healthy cell production, iron accumulates in organs like the liver and heart, leading to overload.
Early signs often include persistent jaundice (yellowing of the skin and eyes) that does not resolve as expected, along with signs of anemia such as weakness and pallor. An enlarged spleen and liver (hepatosplenomegaly) may also be detected during physical exams. If these symptoms persist despite standard treatments for anemia, clinicians may suspect a congenital disorder like CDA type I.
The CDIN1 protein acts as a nuclease that helps correct errors in DNA during replication. In red blood cell precursors, which divide rapidly, this repair function is critical. Mutations in CDIN1 reduce the protein's ability to fix DNA damage, leading to the accumulation of errors in the developing erythroblasts. This results in abnormal cell morphology and the premature destruction of these immature cells, causing anemia.
While there is no cure for the genetic defect, management focuses on controlling symptoms and preventing complications. Regular blood transfusions may be needed to manage severe anemia. To prevent dangerous iron overload, chelation therapy is often required to remove excess iron from the body. In some cases, a bone marrow transplant may be considered, though it carries significant risks and is not always successful.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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