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FLASH GENE
Symbol ALX4 contributors: mct/npt - updated : 25-04-2023
HGNC name ALX homeobox 4
HGNC id 450
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix DNA binding domain
    • mono polymer homomer , heteromer , polymer
    HOMOLOGY
    interspecies homolog to murine Alx4
    Homologene
    FAMILY
  • paired homeobox family (non HOX)
    • CATEGORY DNA associated , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in endochondral bone ossification
  • plays a critical role both in craniofacial development as in skin and hair follicle development (Kayserili 2009)
  • is a homeodomain transcription factor with known involvement in osteoblast regulation
  • acts as a novel functional tumor suppressor inactivated by DNA methylation
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text skull development
    PATHWAY
    metabolism
    signaling
    a component
  • forming homo or hetero polymers with other ALXs
    • INTERACTION
    DNA binding to palindromic sequences
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PFM1 , DEL11PP , FND2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer, duct carcinoma in situ (DCIS) or invasive ductal carcinoma (IDC) (Chang 2009)
    tumoral     --low  
    in breast cancer cell lines and tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is an independent prognostic factor in breast cancer
  • serum free DNA test of methylation of the ALX4 gene promoter is a sensitive and specific method and it seems ALX4 has the potential of a clinically useful test for the early detection of colorectal cancer
    • Therapy target
    ANIMAL & CELL MODELS
  • inactivation of Alx4 causes lacrimal gland aplasia in both human and mouse