From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
KIAA0196 (also known as strumpellin ) is a human gene .[ 5] actin assembly on intracellular vesicles .[ 6] hereditary spastic paraplegia .[ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000164961 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022350 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "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): 147. doi :10.1186/s13023-015-0359-x ISSN 1750-1172 . PMC 4647479 PMID 26572744 .
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