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KIAA0196

From Wikipedia, the free encyclopedia
(Redirected from Strumpellin)
WASHC5
Identifiers
AliasesWASHC5, RTSC, SPG8, RTSC1, KIAA0196, WASH complex subunit 5
External IDsOMIM: 610657; MGI: 2146110; HomoloGene: 8898; GeneCards: WASHC5; OMA:WASHC5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014846
NM_001330609

NM_153548

RefSeq (protein)

NP_001317538
NP_055661

NP_705776

Location (UCSC)Chr 8: 125.02 – 125.09 MbChr 15: 59.2 – 59.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

KIAA0196 (also known as strumpellin) is a human gene.[5] The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles.[6] Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.[7]


References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164961Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022350Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: KIAA0196 KIAA0196".
  6. ^ 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.
  7. ^ 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): 147. doi:10.1186/s13023-015-0359-x. ISSN 1750-1172. PMC 4647479. PMID 26572744.
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Further reading

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