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Gene Review:

KIAA0196 - KIAA0196

Homo sapiens

Synonyms: RTSC, SPG8, Strumpellin, WASH complex subunit strumpellin

Porkka, K.P. et al., Valdmanis, P.N. et al.

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Disease relevance of KIAA0196

RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer [1].
Two genes from chromosomal region 8q24-RAD21 and KIAA0196-showed increased expression in clinical prostate carcinomas and were also amplified in 30-40% of xenografts and hormone-refractory tumors [1].

High impact information on KIAA0196

We have identified three mutations in the KIAA0196 gene in six families that map to the SPG8 locus [2].
Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia [2].
The data suggest that KIAA0196 and possibly RAD21 are putative target genes for the common amplification of 8q23-24 in prostate cancer [1].
In addition, the expression of KIAA0196 was significantly (P=0.0051) higher in tumors with the gene amplification than in those without it [1].

References

RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer. Porkka, K.P., Tammela, T.L., Vessella, R.L., Visakorpi, T. Genes Chromosomes Cancer (2004) [Pubmed]
Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia. Valdmanis, P.N., Meijer, I.A., Reynolds, A., Lei, A., Macleod, P., Schlesinger, D., Zatz, M., Reid, E., Dion, P.A., Drapeau, P., Rouleau, G.A. Am. J. Hum. Genet. (2007) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

AgaP_AGAP007019	Anopheles gambiae str. PEST
KIAA0196	Bos taurus
T05E7.3	Caenorhabditis elegans
KIAA0196	Canis lupus familiaris
strumpellin	Danio rerio
CG12272	Drosophila melanogaster
KIAA0196	Gallus gallus
LOC706857	Macaca mulatta
E430025E21Rik	Mus musculus
Os04g0398800	Oryza sativa Japonica Group
KIAA0196	Pan troglodytes
RGD1564420	Rattus norvegicus
kiaa0196	Xenopus (Silurana) tropicalis

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