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FLASH GENE
Symbol ALX4 contributors: mct/npt - updated : 20-02-2010
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 - Wuyts (2000)
    EXPRESSION
    Type restricted
    constitutive of
       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
    SUBCELLULAR LOCALIZATION     intracellular
    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)
  • 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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS