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.
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 125,024,260 to 125,091,819
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 125,024,260 to base pair 125,091,819 on chromosome 8.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about KIAA0196?
You and your healthcare professional may find the following resources about KIAA0196 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1827)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for KIAA0196 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9897%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28KIAA0196%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/610657)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_KIAA0196.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=28984)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9897)
What other names do people use for the KIAA0196 gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding KIAA0196?
amino acid ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Gene Review: Spastic Paraplegia 8 (http://www.ncbi.nlm.nih.gov/books/NBK1827)
- Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet. 1999 Feb;64(2):563-9. (http://www.ncbi.nlm.nih.gov/pubmed/9973294?dopt=Abstract)
- OMIM: KIAA0196 GENE (http://omim.org/entry/610657)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9897)
- Porkka KP, Tammela TL, Vessella RL, Visakorpi T. RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer. Genes Chromosomes Cancer. 2004 Jan;39(1):1-10. (http://www.ncbi.nlm.nih.gov/pubmed/14603436?dopt=Abstract)
- Rocco P, Vainzof M, Froehner SC, Peters MF, Marie SK, Passos-Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15;92(2):122-7. (http://www.ncbi.nlm.nih.gov/pubmed/10797436?dopt=Abstract)
- Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. Epub 2006 Dec 1. (http://www.ncbi.nlm.nih.gov/pubmed/17160902?dopt=Abstract)
- van Duin M, van Marion R, Vissers K, Watson JE, van Weerden WM, Schröder FH, Hop WC, van der Kwast TH, Collins C, van Dekken H. High-resolution array comparative genomic hybridization of chromosome arm 8q: evaluation of genetic progression markers for prostate cancer. Genes Chromosomes Cancer. 2005 Dec;44(4):438-49. (http://www.ncbi.nlm.nih.gov/pubmed/16130124?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.