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FLASH GENE
Symbol DYX1C1 contributors: mct/npt - updated : 15-11-2014
HGNC name dyslexia susceptibility 1 candidate 1
HGNC id 21493
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal p23 domain
  • three tetratricopeptide (TPR) domains at C-terminus necessary and sufficient for function in migration (Massinen 2009)
    • HOMOLOGY
    interspecies ortholog to murine Dyx1c1
    ortholog to rattus dyx1c1
    Homologene
    FAMILY
  • TOM70 family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • localizes to a fraction of cortical neurons and white matter glial cells
  • localizes to the cytoplasm of respiratory epithelial cells
    • basic FUNCTION
  • playing a role in neuronal cell stress and ischemia and in dyslexia
  • may be functioning in neuronal migration in neocortex
  • influences reading and spelling ability with additional effects on short-term information storage or rehearsal
  • essential role in cilia growth and function
  • newly identified dynein axonemal assembly factor
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • can modulate the expression of nervous system development and neuronal migration genes such as RELN and associate with a number of cytoskeletal proteins
    • cell & other
    REGULATION
    Other regulated by the complex GTF2I, PARP1, and SFPQ proteins, each previously implicated in gene regulation, that form a complex controlling transcription of DYX1C1
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS26
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    caused a severe ciliary motility defect associated with absent axonemal outer and inner dynein arms (ODAs and IDAs) structures
    Susceptibility to dyslexia (DYX1)
    Variant & Polymorphism
    Candidate gene for susceptibility to dyslexia
    Marker
    Therapy target
    ANIMAL & CELL MODELS