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FLASH GENE
Symbol LRTOMT contributors: npt - updated : 27-10-2008
HGNC name leucine rich transmembrane and 0-methyltransferase domain containing
HGNC id 25033
DNA
TYPE functioning gene
STRUCTURE 30.45 kb     9 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text using a set of different exons and alternative reading frames (Schulze 2009) ; variants 4 and 5 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 2332 - 192 - Ahmed (2008), Schulze (2009)
alsos called variant 1/isoform 1
6 - 988 - 158 - Ahmed (2008), Schulze (2009)
  • also called variant B/isoform 2
  • has a putative catechol-O-methyltransferase domain
  • 9 - 3705 - 251 - Ahmed (2008)
    also called variant 6/isoform 6
    9 - 3822 - 291 - Ahmed (2008)
    also called variant 5/isoform 4
    7 - 3601 - 291 - Ahmed (2008)
    also called variant 4/isoform 4
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Lymphoid/Immunespleen    
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumstereocilia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • catechol-O-methyltransferase domain
  • a transmembrane domain
  • HOMOLOGY
    interspecies homolog to murine Comt2 (92.64p100)
    Homologene
    FAMILY
  • methyltransferase superfamily
  • catechol-O-methyltransferase family
  • CATEGORY enzyme , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • playing an essential role for auditory and vestibular function
  • leucine-rich protein and a methyltransferase, which has evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (LRRC51 and TOMT) in rodents
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission , sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB63
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS