KIAA0196: Difference between revisions
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'''KIAA0196''' (also known as '''strumpellin''') is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: KIAA0196 KIAA0196| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9897| accessdate = }}</ref> The product is a protein that is a component of the [[WASH complex]], which regulates [[actin]] assembly on intracellular [[Vesicle|vesicles]]. Mutations in KIAA0196 are implicated in some forms of [[hereditary spastic paraplegia]]. |
'''KIAA0196''' (also known as '''strumpellin''') is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: KIAA0196 KIAA0196| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9897| accessdate = }}</ref> The product is a protein that is a component of the [[WASH complex]], which regulates [[actin]] assembly on intracellular [[Vesicle|vesicles]].<ref>{{Cite journal|last=Seaman|first=Matthew N. J.|last2=Gautreau|first2=Alexis|last3=Billadeau|first3=Daniel D.|date=2013-11-01|title=Retromer-mediated endosomal protein sorting: all WASHed up!|url=https://www.ncbi.nlm.nih.gov/pubmed/23721880|journal=Trends in Cell Biology|volume=23|issue=11|pages=522–528|doi=10.1016/j.tcb.2013.04.010|issn=1879-3088|pmc=3924425|pmid=23721880}}</ref> Mutations in KIAA0196 are implicated in some forms of [[hereditary spastic paraplegia]].<ref>{{Cite journal|last=Jahic|first=Amir|last2=Khundadze|first2=Mukhran|last3=Jaenisch|first3=Nadine|last4=Schüle|first4=Rebecca|last5=Klimpe|first5=Sven|last6=Klebe|first6=Stephan|last7=Frahm|first7=Christiane|last8=Kassubek|first8=Jan|last9=Stevanin|first9=Giovanni|date=2015-11-16|title=The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8|url=http://www.ojrd.com/content/10/1/147|journal=Orphanet Journal of Rare Diseases|language=En|volume=10|issue=1|doi=10.1186/s13023-015-0359-x|issn=1750-1172|pmc=4647479|pmid=26572744}}</ref> |
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Revision as of 11:38, 10 May 2016
Template:PBB KIAA0196 (also known as strumpellin) is a human gene.[1] The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles.[2] Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.[3]
External links
- GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 8 and the involvement of the protein strumpellin
References
- ^ "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. doi:10.1016/j.tcb.2013.04.010. ISSN 1879-3088. PMC 3924425. PMID 23721880.
- ^ 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). doi:10.1186/s13023-015-0359-x. ISSN 1750-1172. PMC 4647479. PMID 26572744.
{{cite journal}}: CS1 maint: unflagged free DOI (link)
Further reading
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