Health Topics
Official websites use .gov
A
.gov website belongs to an official government
organization in the United States.
Secure .gov websites use HTTPS
A
lock (
) or https:// means you’ve safely connected to
the .gov website. Share sensitive information only on official,
secure websites.
Normal Function
The KIF23 gene provides instructions for making a protein that is part of the kinesin family of proteins. Many proteins in the kinesin family are essential for transporting materials within cells. Kinesin proteins function like freight trains that transport cargo along a track-like system made from structures called microtubules. Some kinesins also help maintain microtubules. As well as functioning like a track, microtubules make up the structural framework of cells and help cells move.
The KIF23 protein plays an important role in cytokinesis, which is the stage during cell division in which dividing cells separate from one another. Specifically, this protein attaches (binds) with the protein produced from the RACGAP1 gene to form a complex called centralspindlin, which is a critical regulator of cytokinesis.
Health Conditions Related to Genetic Changes
Congenital dyserythropoietic anemia
Variants (also called mutations) in the KIF23 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type III. 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 III, immature red blood cells are unusually large and cannot develop into functional, mature cells. As a result, the number of mature and functioning red blood cells decreases, which leads to weakness and enlarged spleens (splenomegaly) in people with CDA type III.
Most KIF23 gene variants that cause CDA type III change single building blocks (amino acids) in the protein. These variants likely impair the function of the protein and disrupt cytokinesis. As a result, the normal development of red blood cells is disrupted. In people with CDA type III, immature red blood cells called erythroblasts are large and have more than one nucleus (often up to 12 nuclei). 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 III.
More About This Health ConditionOther Names for This Gene
- CHO1
- KNSL5
- MKLP-1
- MKLP1
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
- Liljeholm M, Irvine AF, Vikberg AL, Norberg A, Month S, Sandstrom H, Wahlin A, Mishima M, Golovleva I. Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood. 2013 Jun 6;121(23):4791-9. doi: 10.1182/blood-2012-10-461392. Epub 2013 Apr 9. 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
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.