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FLASH GENE
Symbol DLX6 contributors: npt/mct - updated : 02-04-2019
HGNC name distal-less homeobox 6
HGNC id 2919
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix, DNA binding domain
    • HOMOLOGY
    interspecies homolog to Drosophila distal less Dlx6
    intraspecies paralog to DLX5
    Homologene
    FAMILY
  • distal-less homeobox family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in forebrain and craniofacial development
  • acting as an intermediary between endothelin-1 signaling and HAND2 transcription during craniofacial morphogenesis
  • with DLX5, are required for development and function of somal innervating (parvalbumin(+)) neocortical interneurons
  • with DLX5 are functionally equivalent in the endochondral skeleton, in that the requirement for DLX5 and DLX6 function during chondrocyte hypertrophy can be satisfied with DLX5 alone
  • DLX5 and DLX6 expression determines uterine architecture and adenogenesis and is needed for implantation
  • DLX5 and DLX6 are quantitatively indistinguishable on a variety of natural cis-regulatory sequences in a heterologous cellular context but observed quantitatively different transcriptional outputs in cells that normally express these genes, suggesting differential interactions with co-evolved co-activators
  • DLX5/DLX6 expression is required during vertebrate posterior axis formation
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • directly associated with TP63
  • EDN1 regulates neural crest deployment and fate to form great vessels through DLX5/DLX6-independent mechanisms
    • cell & other
    REGULATION
    Other regulated by TP63 (TP63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development
    ASSOCIATED DISORDERS
    corresponding disease(s) SHFM1 , DEL7Q21
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in endometriotic lesions
    tumoral     --over  
    in endometriod adenocarcinomas
    Susceptibility to autistic spectrum disorder (ASD)
    Variant & Polymorphism other a G656A base change (R219H) associted with ASD
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dlx5/Dlx6 double mutants exhibit hindlimb ectrodactyly
  • Dlx5/6-inactivation in the mouse results in a phenotype reminiscent of NTDs characterized by open thoracic and lumbar vertebral arches and failure of epaxial muscle formation at the dorsal midline