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KIAA0196

KIAA0196

Reviewed March 2009

What is the official name of the KIAA0196 gene?

The official name of this gene is “KIAA0196.”

KIAA0196 is the gene's official symbol. The KIAA0196 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 KIAA0196 gene?

The KIAA0196 gene provides instructions for making a protein called strumpellin. Strumpellin is active (expressed) throughout the body, although its exact function is unknown. The protein's structure suggests that stumpellin may interact with the structural framework inside cells (the cytoskeleton) and may attach (bind) to other proteins.

How are changes in the KIAA0196 gene related to health conditions?

spastic paraplegia type 8 - caused by mutations in the KIAA0196 gene

At least three mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8. These mutations change single building blocks (amino acids) in the strumpellin protein. One mutation that has been seen in multiple families replaces the amino acid valine with the amino acid phenylalanine at position 626 in strumpellin (written Val626Phe or V626F). KIAA0196 gene mutations are thought to change the structure of the strumpellin protein. It is unknown how the altered strumpellin protein causes muscle weakness, muscle stiffness, and other features of spastic paraplegia type 8.

cancers - associated with the KIAA0196 gene

Research has shown that the KIAA0196 gene is abnormally active (overexpressed) in certain types of prostate cancer. Scientists do not know what causes this abnormal expression and have not determined whether the KIAA0196 gene plays a role in the development of prostate cancer.

Where is the KIAA0196 gene located?

Cytogenetic Location: 8q24.13

Molecular Location on chromosome 8: base pairs 125,024,259 to 125,091,818

The KIAA0196 gene is located on the long (q) arm of chromosome 8 at position 24.13.

The KIAA0196 gene is located on the long (q) arm of chromosome 8 at position 24.13.

More precisely, the KIAA0196 gene is located from base pair 125,024,259 to base pair 125,091,818 on chromosome 8.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about KIAA0196?

You and your healthcare professional may find the following resources about KIAA0196 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 KIAA0196 gene or gene products?

  • MGC111053
  • SPG8
  • STRUM_HUMAN
  • strumpellin

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 KIAA0196?

acids ; amino acid ; cancer ; cytoskeleton ; expressed ; gene ; mutation ; paraplegia ; phenylalanine ; prostate ; protein ; valine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 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.

 
Reviewed: March 2009
Published: October 27, 2014