KIAA0196

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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]


References

  1. "Entrez Gene: KIAA0196 KIAA0196".
  2. 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.
  3. 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.

External links

Further reading