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KIF23 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KIF23 gene

The KIF23 gene provides instructions for a protein essential for cell division, and variants in this gene are linked to congenital dyserythropoietic anemia type III.

Normal Function

The KIF23 gene provides instructions for a protein in the kinesin family. Kinesin proteins function like freight trains, transporting cargo along a track-like system of microtubules within cells.

The KIF23 protein is specifically important for cytokinesis, the stage of cell division where cells separate. It binds with the protein produced by the RACGAP1 gene to form a complex called centralspindlin, which is a critical regulator of this process.

Health Conditions Related to Genetic Changes

Congenital dyserythropoietic anemia

Variants in the KIF23 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type III, a condition characterized by a shortage of red blood cells due to abnormal formation.

  • Cellular Impact: Variants impair protein function and disrupt cytokinesis during red blood cell development.
  • Abnormal Erythroblasts: Immature red blood cells (erythroblasts) become unusually large and often contain multiple nuclei, preventing them from maturing into functional red blood cells.
  • Symptoms: The resulting shortage of healthy red blood cells leads to weakness and enlarged spleens (splenomegaly).

Other Names for This Gene

  • CHO1
  • KNSL5
  • MKLP-1
  • MKLP1

Frequently Asked Questions

Parents may notice persistent fatigue, pallor, or easy bruising in their child. A routine blood test might reveal a low red blood cell count, low hemoglobin, and unusually large, multinucleated red blood cell precursors (erythroblasts) on a bone marrow smear. If these findings are present, a genetic test for KIF23 variants is recommended.
Management focuses on treating anemia and its complications. Regular blood transfusions may be needed to maintain hemoglobin levels. Iron chelation is not indicated because iron overload is uncommon. Splenectomy can reduce hemolysis and improve red cell survival, but it carries surgical risks. Emerging therapies targeting cytokinesis pathways are under investigation but not yet standard care.
definitive diagnosis requires a DNA test, usually a targeted gene panel or whole-exome sequencing that includes KIF23. The test is performed on a blood sample; the lab compares the sequence to reference genomes to identify pathogenic variants. Results are typically available within 2–4 weeks.
KIF23-related congenital dyserythropoietic anemia is typically inherited in an autosomal recessive pattern. If both parents carry a pathogenic variant, each child has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. Genetic counseling is advised for families considering future pregnancies.
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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