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FLASH GENE
Symbol OFCC1 contributors: mct - updated : 13-09-2017
HGNC name orofacial cleft 1 candidate 1
HGNC id 21017
Location 6p24.3      Physical location : -
Synonym name
  • Ojoplano
  • Synonym symbol(s) MRDS1, Opo
    DNA
    TYPE functioning gene
    STRUCTURE 500.00 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthpalate   
    Endocrineplacenta    
    Lymphoid/Immunespleen    
    Nervousbrainhindbraincerebellum  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, hard palate
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    interspecies homolog to chicken ofcc1
    ortholog to murine Ofcc1
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • candidate gene for orofacial cleft
  • may be playing a role in craniofacial development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • developmental regulator OFCC1 enables polarized integrin localization by modulating NUMB/NUMBL, thus directing the basal constriction that shapes the vertebrate retina epithelium
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to schizophrenia
  • to Tourette syndrome/chronic tic phenotype (TS-CTD
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mrds1/Ofcc1-null mice showed a marked increase in serum GGT, a marker for liver damage, but no abnormalities in other liver-related measurements