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FLASH GENE
Symbol SDHAF2 contributors: npt/ - updated : 08-07-2008
HGNC name succinate dehydrogenase complex assembly factor 2
HGNC id 26034
Corresponding disease
PGL2 hereditary paraganglioma 2
Location 11q13.1      Physical location : 61.197.596 - 61.214.237
Synonym name
  • chromosome 11 open reading frame 79
  • protein EMI5 homolog, mitochondrial
  • hypothetical protein LOC54949
    • Synonym symbol(s) FLJ20487, C11orf79, SDH5
    DNA
    TYPE functioning gene
    STRUCTURE 16.63 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1250 19 166 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrineparathyroid    
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • EMI5 family
    • CATEGORY enzyme , unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • may be involved in the flavination of succinate dehydrogenase (Hao 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the catalytic subunit of the succinate dehydrogenase (SDH) complex (Hao 2009)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PGL2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in paraganglioma (Hao 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • tumor susceptibility gene (segregate with disease in a family with hereditary paraganglioma (Hao 2009)
    • Marker
    Therapy target
    ANIMAL & CELL MODELS