jueves, 29 de enero de 2015

AURKC - aurora kinase C - Genetics Home Reference

AURKC - aurora kinase C - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the AURKC gene?

The official name of this gene is “aurora kinase C.”
AURKC is the gene's official symbol. The AURKC gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the AURKC gene?

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.

How are changes in the AURKC gene related to health conditions?

macrozoospermia - caused by mutations in the AURKC gene
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.

Where is the AURKC gene located?

Cytogenetic Location: 19q13.43
Molecular Location on chromosome 19: base pairs 57,230,380 to 57,235,547
The AURKC gene is located on the long (q) arm of chromosome 19 at position 13.43.
The AURKC gene is located on the long (q) arm of chromosome 19 at position 13.43.
More precisely, the AURKC gene is located from base pair 57,230,380 to base pair 57,235,547 on chromosome 19.

Where can I find additional information about AURKC?

You and your healthcare professional may find the following resources about AURKC helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the AURKC gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding AURKC?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (6 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook

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