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FLASH GENE
Symbol LOXHD1 contributors: mct/npt/pgu - updated : 16-05-2018
HGNC name lipoxygenase homology domains 1
HGNC id 26521
Corresponding disease
DFNB77 neurosensory deafness 77
FECD9 corneal dystrophy, Fuchs endothelial 9
Location 18q21.1      Physical location : 44.056.935 - 44.236.996
Synonym symbol(s) FLJ32670, LH2D1
DNA
TYPE functioning gene
STRUCTURE 124.70 kb     27 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
27 - 6854 - 2211 - 2009 19732867
24 - 3961 - 1114 - 2009 19732867
9 - 1993 - 512 - 2009 19732867
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearmiddlevestibule  
 earinnercochlea  
Visualeyeanterior segmentcornea   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumstereocilia
Visualepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
Text in the developing inner ear
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 15 PLAT (polycystin/lipoxygenase/-toxin) domains, which share structural similarity to eukaryotic Ca2+-binding C2 domains (14 PLAT domains are believed to be involved in targeting of proteins to the plasma membrane)
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
    text localized in hair cells along the plasma membrane of stereocilia
    basic FUNCTION
  • required for hair cell function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB77 , FECD9
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS