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FLASH GENE
Symbol BHLHA9 contributors: mct - updated : 20-03-2013
HGNC name basic helix-loop-helix family, member a9
HGNC id 35126
Corresponding disease
MSSD mesoaxial synostotic syndactyly with phalangeal reduction
SHFM10 split hand/foot malformation associated locus 10
Location 17p13.3      Physical location : 1.173.857 - 1.174.564
Synonym name
  • class A basic helix-loop-helix protein 9
  • class F basic helix-loop-helix factor 42
  • Fingerin
    • Synonym symbol(s) BHLHF42
    DNA
    TYPE functioning gene
    STRUCTURE 0.71 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 708 - 235 - 2012 22147889
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • a putative basic loop helix transcription factor
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SHFM10 , MSSD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS