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AURKC gene
URL of this page: https://medlineplus.gov/genetics/gene/aurkc/

AURKC gene

aurora kinase C

Normal Function

The AURKC gene provides instructions for making a protein called aurora kinase C. This protein regulates certain events during cell division. Cell division occurs when a cell replicates and splits its contents, separating into two new cells. Aurora kinase C helps the two dividing cells separate from each other and ensures that these cells each contain a complete set of chromosomes. Aurora kinase C is most abundant in male testes, which are the male reproductive organs in which sperm are produced and stored. In the testes, this protein regulates the division of sperm cells, ensuring that every new sperm cell divides properly and contains one copy of each chromosome.

Health Conditions Related to Genetic Changes

Macrozoospermia

At least four mutations in the AURKC gene have been found to cause macrozoospermia. This condition causes males to have abnormal sperm, which leads to an inability to father biological children (infertility). AURKC gene mutations that cause macrozoospermia lead to the production of a nonfunctional protein or a protein that is quickly broken down. One mutation that is a frequent cause of this condition in men of North African descent deletes a single DNA building block (nucleotide) from the AURKC gene (written 144delC). The protein produced from the altered gene is abnormally short and nonfunctional.

A lack of aurora kinase C blocks cell division in sperm cells. As a result, sperm cells have extra chromosomes, usually four copies of each instead of the usual one. This increase in chromosome number enlarges the sperm cell head and leads to the presence of multiple tails (flagella). Because of the additional genetic material, if one of these abnormal sperm cells combines with an egg cell, the embryo will not develop or the pregnancy will result in miscarriage.

More About This Health Condition

Other Names for This Gene

  • AIK3
  • AIK3 protein kinase
  • ARK-3
  • ARK3
  • AurC
  • aurora-related kinase 3
  • aurora/IPL1-like kinase 3
  • aurora/IPL1-related kinase 3
  • serine-threonine-protein kinase 13
  • serine/threonine-protein kinase aurora-C
  • STK13

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF. Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia. Hum Reprod. 2012 Nov;27(11):3337-46. doi: 10.1093/humrep/des296. Epub 2012 Aug 11. Citation on PubMed
  • Ben Khelifa M, Zouari R, Harbuz R, Halouani L, Arnoult C, Lunardi J, Ray PF. A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. Mol Hum Reprod. 2011 Dec;17(12):762-8. doi: 10.1093/molehr/gar050. Epub 2011 Jul 6. Citation on PubMed or Free article on PubMed Central
  • Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, Perrin J, Martinez D, Sele B, Jouk PS, Ohlmann T, Rousseaux S, Lunardi J, Ray PF. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet. 2007 May;39(5):661-5. doi: 10.1038/ng2027. Epub 2007 Apr 15. Citation on PubMed
  • Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, Prisant N, Zoghmar A, Guichaoua MR, Koscinski I, Kharouf M, Noruzinia M, Nadifi S, Sefiani A, Lornage J, Zahi M, Viville S, Sele B, Jouk PS, Jacob MC, Escalier D, Nikas Y, Hennebicq S, Lunardi J, Ray PF. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet. 2009 Apr 1;18(7):1301-9. doi: 10.1093/hmg/ddp029. Epub 2009 Jan 15. Citation on PubMed

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