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WDR1 Gene

Last updated on: 30.06.2022

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Definition
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The WDR1 gene (WDR1 stands for "WD Repeat Domain 1") is a protein-coding gene located on chromosome 4p16. Two transcript variants encoding different isoforms have been found for this gene.

General information
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The WDR1 gene encodes a protein with 9 WD repeats (WD repeats are domains of about 30 to 40 amino acids containing multiple conserved residues, usually including a Trp-Asp at the C-terminal end. WD domains are involved in protein-protein interactions). The encoded protein may contribute to cause actin filament disassembly.

Here, it induces actin filament disassembly in association with ADF/cofilin family proteins (Fujibuchi T et al. 2005) and participates in cytokinesis. The protein is involved in chemotactic cell migration by restricting lamellipodial membrane protrusions (Kato A et al 2008). Furthermore, it is involved in the organization of cardiac muscle sarcomeres. It is required for the growth and maintenance of cardiomyocytes, further in the maturation of megakaryocytes and the release of platelets, and in the establishment and maintenance of epithelial apical cell junctions.

Clinical picture
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Diseases associated with WDR1 include periodic fever, immunodeficiency, and thrombocytopenia syndrome.

Literature
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  1. Fujibuchi T et al (2005) AIP1/WDR1 supports mitotic cell rounding. Biochem Biophys Res Commun 327:268-75)
  2. Kato A et al (2008) Critical roles of actin-interacting protein 1 in cytokinesis and chemotactic migration of mammalian cells. Biochem J 414:261-270.).

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Last updated on: 30.06.2022