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FLASH GENE
Symbol ALX4 contributors: mct/npt - updated : 25-04-2023
HGNC name ALX homeobox 4
HGNC id 450
Corresponding disease
DEL11PP Potocki-Shaffer syndrome
FND2 frontonasal dysplasia 2
PFM1 parietal foramina permagna 1
Location 11p11.2      Physical location : 44.282.277 - 44.331.716
Synonym name
  • aristaless-like homeobox 4
  • parietal foramina 2
  • aristaless-like homeobox 4
    • Synonym symbol(s) FPP, PFM2, KIAA1788, PFM
    DNA
    TYPE functioning gene
    STRUCTURE 45.56 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 5466 - 411 - 1999 9847249
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skeletonaxialskullcranium  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text craniofacial mesenchyme
    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