KIAA0196

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WASHC5
Identifiers
Aliases WASHC5, RTSC, SPG8, RTSC1, KIAA0196
External IDs MGI: 2146110 HomoloGene: 8898 GeneCards: WASHC5
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014846
NM_001330609

NM_153548

RefSeq (protein)

NP_001317538
NP_055661

NP_705776.2
NP_705776

Location (UCSC) Chr 8: 125.02 – 125.09 Mb Chr 15: 59.33 – 59.37 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: KIAA0196 KIAA0196". 
  4. ^ 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 3924425Freely accessible. PMID 23721880. 
  5. ^ 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 4647479Freely accessible. PMID 26572744. 

External links[edit]

Further reading[edit]