KIAA0196
KIAA0196 (also known as strumpellin) is a human gene.[3] The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles.[4] Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.[5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: KIAA0196 KIAA0196".
- ↑ Seaman, Matthew N. J.; Gautreau, Alexis; Billadeau, Daniel D. (2013-11-01). "Retromer-mediated endosomal protein sorting: all WASHed up!". Trends in Cell Biology. 23 (11): 522–528. ISSN 1879-3088. PMC 3924425
. PMID 23721880. doi:10.1016/j.tcb.2013.04.010. - ↑ Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni (2015-11-16). "The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8". Orphanet Journal of Rare Diseases. 10 (1). ISSN 1750-1172. PMC 4647479 . PMID 26572744. doi:10.1186/s13023-015-0359-x.
External links
Further reading
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. PMID 8125298. doi:10.1016/0378-1119(94)90802-8.
- Nagase T, Seki N, Ishikawa K, et al. (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 3 (1): 17–24. PMID 8724849. doi:10.1093/dnares/3.1.17.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3.
- Hedera P, Rainier S, Alvarado D, et al. (1999). "Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q". Am. J. Hum. Genet. 64 (2): 563–569. PMC 1377766 . PMID 9973294. doi:10.1086/302258.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–569. PMID 12665801. doi:10.1038/nbt810.
- Porkka KP, Tammela TL, Vessella RL, Visakorpi T (2004). "RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer". Genes Chromosomes Cancer. 39 (1): 1–10. PMID 14603436. doi:10.1002/gcc.10289.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. PMC 1356129 . PMID 16344560. doi:10.1101/gr.4039406.
- Valdmanis PN, Meijer IA, Reynolds A, et al. (2007). "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia". Am. J. Hum. Genet. 80 (1): 152–161. PMC 1785307 . PMID 17160902. doi:10.1086/510782.