| Modification Notes |
DIXDC1 (DIX domain containing 1), also known as CCD1 or Dixin, is a 683 amino acid protein protein that localizes to the cell junction and to the cytoplasm in an isoform-dependent manner and contains one DIX domain and one CH (calponin-homology) domain. Expressed ubiquitously with highest expression in skeletal and cardiac muscle, DIXDC1 interacts with F-Actin and functions as a positive regulator of the Wnt signaling pathway, effectively targeting the ∫-catenin-TCF complex for gene expression and mediating Actin dynamics within the cytoskeleton. The gene encoding DIXDC1 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11. |