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- Table of Contents
Facts about Wiskott-Aldrich syndrome protein.
Possible regulator of lymphocyte and platelet function (PubMed:9405671). Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria (PubMed:18650809).
Human | |
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Gene Name: | WAS |
Uniprot: | P42768 |
Entrez: | 7454 |
Belongs to: |
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No superfamily |
IMD2THC; Thrombocytopenia 1; WAS; WASP; WiskTHC1; wiskthrombocytopenia 1 (X-linked)
Mass (kDA):
52.913 kDA
Human | |
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Location: | Xp11.23 |
Sequence: | X; NC_000023.11 (48683753..48691427) |
Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen.
Cytoplasm, cytoskeleton. Nucleus.
PMID: 8069912 by Derry J.M.J., et al. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.
PMID: 7753869 by Kwan S.-P., et al. Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.